Clinical presentation

The World Federation of Neurology (WFN) has developed suggested diagnostic criteria (suspected, possible, probable, and definite) for patients with ALS entering clinical research trials. Essentially, a patient with “definite” ALS must show concomitant upper motor neuron and lower motor neuron signs in three spinal regions or in two spinal regions with bulbar signs. Either upper or lower motor signs must also be evident in other regions of the body.¹³ Exclusionary criteria are oculomotor nerve pathway abnormalities (the oculomotor nerve is spared in ALS), significant movement disorder patterns, sphincter control problems, the presence of sensory and autonomic nervous system (ANS) dysfunction, and cognitive deterioration.¹⁴ (Refer to the WFN ALS website [www.wfnals.org] section on ALS education for up-to-date criteria used for clinical studies.)

Although a consistent diagnostic criterion for ALS has been the absence of sensory involvement, some evidence exists that there is a progressive functional deficit in sensation, perhaps related to ongoing immobility.¹⁵

Similarly, cognitive deficits are considered exclusionary criteria for an ALS diagnosis. However, a small subgroup of patients with both familial and sporadic forms of ALS has been identified as having concomitant evidence of frontotemporal dementia (FTD), showing lower scores on executive cognitive functions, word finding, and phrase length.¹⁶ A combination of ALS and FTD suggests a common cause may be possible.¹⁷ Because of these findings, therapists should be aware of the possibility of cognitive deficits in their patients with ALS, manifested as a decrement in executive skills such as planning and organization and language problems. Such patients may have more difficulty following through on medication and therapeutic recommendations, and their families may need more support. Unassociated with overall cognitive impairment, some deficits in action knowledge as opposed to object knowledge have been noted in patients with ALS, correlating with atrophy in the motor and premotor cortex.¹⁸ Specific cognitive deficits, therefore, may be more common than previously noted.

The earliest clinical markers heralding ALS are fasciculations (especially unequivocal fasciculation in the tongue), muscle cramps, fatigue, weakness, and atrophy.^13,19 During initial diagnostic visits, patients frequently report to their physicians a profound sense of fatigue or the loss of exercise tolerance.¹⁹ Ninety percent of patients report weakness occurring in a striated muscle or group of muscles. Because the onset of ALS is insidious, most patients are not aware of the strength changes, or they have adjusted to the changes until they have difficulty with a functional activity such as tying shoes or climbing stairs. Physical examination usually demonstrates more widespread weakness and atrophy than reported by the patient. By the time most patients report weakness, they have lost approximately 80% of their motor neurons in the areas of weakness. This demonstrates the plasticity of the nervous system and its drive to adapt to meet functional goals. The weakness spreads over time to include musculature throughout the body. Succeeding symptoms of weakness in other muscles depends on the continued loss of motor neurons to the 20% threshold needed for perception of weakness.^20,21 A typical, but not absolute, pattern of motor progression is early distal involvement followed by proximal limb involvement. In some cases bulbar symptoms herald the onset of ALS, but bulbar symptoms more commonly occur later in the disease. Flexor muscles tend to be weaker than extensor muscles.²²

Although the atrophy and weakness component of ALS is most obvious, 80% or more of patients show early clinical evidence of pyramidal tract dysfunction (e.g., hyperreflexia in the presence of weakness and atrophy, spasticity, and Babinski and Hoffmann reflexes).¹³ Although in some cases the upper motor neuron signs may be absent clinically, Chou²³ has shown on autopsy that significant involvement may be present despite the lack of clinical evidence.

The pattern of ALS onset is highly varied, with several patterns identified by primary area of onset. Lower-extremity onset is slightly more common than upper-extremity onset, which is more common than bulbar onset. Some patients show initial symptoms in distal musculature of upper and lower extremities. A significant diagnostic feature of the pattern of disease is the asymmetry of the weakness and the sparing of some muscle fibers even in highly atrophied muscles. For example, a patient may have weakness of the right intrinsics and shoulder musculature or weakness of the left anterior tibial muscles. Bulbar symptoms are presaged by tongue fasciculations and weakness, facial and palatal weakness, and swallowing difficulties, which result in dysphagia and dysarthria. Pseudobulbar palsy is sometimes present in ALS, manifested by spontaneous laughing or crying unrelated to the situation.²⁴ Despite the pattern of onset, however, the eventual course of the illness is similar in most patients, with an unremitting spread of weakness to other muscle groups leading to total paralysis of spinal musculature and muscles innervated by the cranial nerves. Death is usually related to respiratory failure.²⁵

In a longitudinal study using monthly questionnaires, direct patient interviews, record reviews, physician interviews, and family member interviews, Brooks and colleagues²⁰ followed 702 patients with ALS. Their findings suggest that spread of neuronal degeneration occurred more quickly to adjacent areas than to noncontiguous areas. The spread to adjacent areas was more rapid at the brain stem, cervical, and lumbar regions. Limb involvement after bulbar onset was more aggressive in men than in women.²⁰

One study focused on developing methods to assess the natural history of the progression of ALS so that medical and supportive treatment planning and interventions could be instituted.²⁶ Hillel and colleagues²⁷ have developed the ALS severity scale for rapid functional assessment of disease stage. Their 10-point ordinal scale allows clinicians and therapists to score patients in four categories: speech, swallowing, and lower-extremity and upper-extremity function (Box 17-1).

A five-point scale of severity is currently being used in ALS clinical drug trials. Patients in stage 1 (mild disease) have a recent diagnosis and are functionally independent in ambulation, activities of daily living (ADLs), and speech. Stage 2 (moderate) identifies patients with mild deficits in function in three regions or a moderate to severe deficit in one region and mild or normal function in two other regions. Stage 3 (severe) defines patients who need assistance because of deficits in two or three regions; for example, the patient needs assistance to walk or transfer, needs help with upper-extremity activities, and/or is dysarthric or dysphasic. Stage 4 identifies patients with nonfunctional movement of at least two regions and moderate or nonfunctional movement of a third area. Stage 5 is death.²² (See Brooks and colleagues¹⁴ and Pradas and colleagues²⁸ for information on the natural history of ALS and its importance in the design of clinical treatment trials.)

Along with the primary impairments of weakness and fatigue affecting body structure and function in ALS, patients also have progressive limitations in activity and participation.²⁹ Activity limitations result in gradual loss of independence in community and then household tasks. Mechanical and electronic adaptive devices can help extend independence in some ADLs past the initial strength losses. Participation limitations result in progressive isolation from the community and family unless extraordinary efforts persist to retain a communication system at home and through electronic media.

Medical prognosis

In almost all cases ALS progresses relentlessly and leads to death from respiratory failure. The rate of progression seems to be consistent for each patient but varies considerably among patients. Patients with an initial onset of bulbar weakness (dysarthria, dysphagia) and respiratory weakness (dyspnea) tend to have a more rapid progression to death than patients whose weakness begins in the distal extremities.³⁰ Death usually follows within 2 to 4 years after diagnosis, with a small number of patients living for 15 to 20 years.¹⁰

Years of survival after diagnosis may change as drug therapies are developed.³¹ In addition, increasing numbers of patients are electing to prolong life with home-based mechanical ventilation as opposed to palliative or comfort care only.

Medical management

ALS has no known cure and minimal effective disease-slowing treatments. Mitchell and Borasio²⁴ have created a table (see Table 2 in their study) that summarizes the results of trials of the many putative ALS-modifying pharmaceuticals. Only riluzole has been approved for treatment of ALS. Riluzole provides very modest improvement over a placebo in both bulbar and limb function, but not in actual strength of muscles.³² The drug extended lifespan an average of 2 to 3 months. The side effects were minimal in some studies, but fatigue and weakness have been noted in 26% and 18% of patients taking riluzole compared with a placebo.³³

The popular press has reported on nutritional cures for ALS, including regular use of vitamin E. However, Orrell and colleagues³⁴ found insufficient evidence to support clinical use of vitamin E supplements in ALS as an additive to riluzole treatment or as adjunctive therapy, although no apparent contraindication was found to taking the supplement. Other nutritional and nonpharmaceutical supplements have had some success in animal models of ALS, but this has not yet been confirmed in humans.³⁵

Cannabis has been studied for its effect on spasticity in patients with multiple sclerosis and spinal cord injury. In a study of 131 people with ALS, 13 used cannabis, with reports of reduction in spasticity, pain, and depression.³⁶ Because of the apparent hopelessness of the diagnosis, many physicians, especially those not associated with major medical centers having neuromuscular disease units, do not refer patients with ALS for services, yet few primary care physicians or neurologists have extensive experience in the care of patients and families coping with ALS because of the low incidence of the disease. Yet, referral of patients with ALS to a multidisciplinary clinic typically extends the patient’s lifespan, especially patients with bulbar onset of ALS.^25,37

Therapeutic management of movement dysfunction associated with ALS

Perhaps because of the multitude of issues to consider when managing the impairments and limitations associated with ALS, evidence suggests that patients treated by a specialized ALS multidisciplinary team fare better than do those treated by single-source providers,⁶⁵ or in general neurology clinics.³³ A Cochrane review of the evidence for multidisciplinary care advantages in this population concluded that the evidence is of low quality, so far, with no controlled trials identified.⁶⁶ Whether administered through an ALS-specific team or not, therapeutic management will necessitate examination of the patient’s current status, evaluation of the deficits in relation to patient preferences and needs, and establishment of a plan based on mutually determined and realistic goals. The rate of the patient’s disease progression, the areas and extent of involvement, and the stage of illness must be considered. A patient at the initial stages will have different needs than a patient at later stages who has chosen NIV or tracheostomy ventilation that may extend life span at a markedly reduced mobility level. The goal at all stages is to optimize health and increase the quality of life. With guidance and environmental adaptations, patients with slowly progressing weakness may be able to continue many of their ADLs for an extended number of years. In the final stages of the disease, when the patient is bedridden, programs to increase strength or endurance are not appropriate, and interventions such as stretching may not effectively control contracture development. However, patients may still benefit from positioning and range-of-motion (ROM) exercises to decrease muscle and joint pain related to immobility. The prescription of assistive devices and training of caregivers will also be needed. The efficacy of therapeutic interventions will be related to the timing of interventions, the motivation and persistence of the patient in carrying out the program, and support from family members or caregivers.⁶⁷ Objective documentation of outcome measures will help justify the usefulness of therapeutic interventions at all stages of this disease.

Examination

The extent of the therapeutic examination of a patient with ALS will depend on whether the therapist is working as a member of a rehabilitative team or as an independent or clinic-based therapist receiving a referral to evaluate and treat. PTs and OTs working as team members may have a more circumscribed role related to gross motor function and ADLs, with other consultants focusing on bulbar, respiratory, and environmental adjustments. The therapist working in a facility without a neuromuscular disease clinic or in a community or rural environment, however, should be aware of the need to carry out a broad-based assessment. In addition to the standard neuromuscular, musculoskeletal, and functional-level examinations, the therapist should also evaluate the patient’s stated or observed functional problems relative to bulbar and respiratory impairments, environmental blocks to independence, and caregiving demands.

If possible, before the patient’s initial visit, the therapist should contact the patient and request that he or she keep an activity log for several days. If an early contact is not possible, the therapist can assign that task during the initial session. The log should include 15-minute time increments in which the patient or caregiver can record what she or he was doing during a specific period. The log should also indicate whether the patient was experiencing fatigue or pain during the activity and how the patient perceived her or his respiratory status. An example of an activity log and how it is used is shown in Figure 17-2. The sense of fatigue with repetitive muscle activity or functional activity should be specifically tracked by the patient.

Weakness will be the primary deficit, with other problems following depending on the location of strength loss. Muscle weakness and the experience of fatigue may be independent measures of ALS pathology, however.⁶⁸ Although weakness may affect balance during gait, patients with ALS have not shown deficits in postural control during quiet stance despite significant paresis or tone changes, possibly because sensation is relatively preserved.⁶⁹

The therapist’s examination will vary depending on the patient’s situation²⁹; however, a typical initial assessment may include the following:

 Review of the patient’s medical and activity records, especially time since diagnosis, time course of disease progression to date, current medications, concurrent medical issues, current activities and participation and tolerance for them.

 History should focus on current and recent activities and participation signifying patient’s lifestyle, ADL tasks, hobbies or interests, and work focus; primary complaints, including weakness, fatigue, pain, respiratory status, safety, or speech and swallowing issues; psychosocial support issues (family, caregivers, and agencies); patient’s and family members’ understanding of ALS and the likely progression and prognosis; and patient’s current concerns and goals.

 Screening for multisystem involvement should include checking vital signs at rest, skin integrity, bony abnormalities, sensory integrity, communication ability, and ability to follow multistep commands. More extensive examination of systems showing deficits may be indicated, or the patient may be referred to appropriate health care professionals.

 Baseline testing of muscle strength (manual muscle testing [MMT] or electronic handheld dynamometer testing if standards are clear and can be replicated), ROM, spasticity, and endurance; documentation of any areas of atrophy.

 Assessment of functional activity level (using a standardized test or assessment tool whenever possible) to include, as appropriate: transfers, gait, upper-extremity function, postural control, and assistive devices; suggested tools include the ALS functional rating scale (ALSFRS),⁷⁰ the ALS severity scale (ALSSS),²⁷ timed walk test, or Purdue Pegboard.⁷⁰

 Documentation of pain (type, site, and intensity; use body chart and subjective pain scale); identify what makes pain worse or better.

 Assessment of bulbar and respiratory function. (For an in-depth evaluation of bulbar function, the patient should be referred to an ear, nose, and throat clinic or communications disorders clinic unless full evaluation is available in a comprehensive ALS clinic. See Table 17-1 for bulbar and respiratory evaluation suggestions.)

TABLE 17-1 

COMMON PHYSICAL FINDINGS IN BULBAR AMYOTROPHIC LATERAL SCLEROSIS

ANATOMICAL SITE	INNERVATION	METHOD OF EVALUATION	PROGRESSION OF FINDINGS	PROGRESSION OF SYMPTOMS
GROUP I
Tongue	XII	Inspect for fasciculations at rest	Fasciculations evident	Dysarthria (disturbance of lingual-alveolar consonants t, d, l, and so on)
		Range of motion	Slow, incomplete lateral movementsLoss of lateral forceUnable to reach palate with mouth open	Inability to clear buccal sulcus of foodMarked dysarthria (slow rate and slurring of consonants)
		Protrusion	Unable to protrude beyond lips	Oral transport difficultiesDietary changes
		Perform rapid lateral motion	Unable to protrude beyond incisorsAtrophy evidentParalysis	Speech intelligibility problems
Lips	VII	Suck on gloved fingerSmile or curl lips over teethHold seal and blow out cheeks	Lack of suctionInability to complete a sealInability to purse lips	Inability to whistleInability to use a strawDysarthria (loss of bilabial consonants p and b)Drooling
GROUP 2
Palate	V, X, XI	Visual examination during phonation and stimulation of gagPuff out cheeks to check for nasal air leak (hold lips closed if necessary)	Unsustained or slow palatal elevationSoft palate fails to reach Passavant ridgeAbsence of palatal movement	Dysarthria (hypernasal speech)Inability to use a strawNasal air emission during speechNasopharyngeal reflex on swallowing
Muscles of mastication	V	Palpate during bite	Noticeable wasting	Chewing fatigue
Masseter, temporalis		Visual inspection for wasting	Unable to palpate contraction	Elimination of specific, tough foods from dietDietary changes (soft foods and liquids)Mouth breathing and drying of secretions
Pterygoids		Move jaw from side to side	No observable lateral jaw movement	Unable to use dentures
GROUP 3
Neck and shoulder	XI
Trapezius		Hold arm in coronal plane, hand externally rotated, as patient elevates arm against resistance while the trapezius is palpated	Progressive inability to raise the arm (often asymmetrical weakness)	Inability to comb hairInability to perform facial grooming
Sternocleidomastoid or mounted head support		Turn the head against resistance applied to opposite side of patient’s chin	Progressive weakness in turning the head against resistance (often asymmetrical)	Inability to lift head when supineInability to support head while sitting; wears neck collar, has weakness
Vocal cords	X	Mirror or fiberoptic laryngoscopy	Progressive loss of abduction of vocal cords: mild abductor weakness, near-midline paralysisParadoxical vocal cord movement	Strained or strangled voiceShort of breath (stridor usually not present because of impaired respiratory function)
GROUP 4
Extraocular muscles	III, IV, VI	Assessment of extraocular movements	Limitation of extraocular movement	Limitation of gaze
Respiratory group
Diaphragm	C3-5	Pulmonary function test or handheld respirometer for vital capacity	Diminishing vital capacity: 1.5-2.0 L	Shortness of breath during exertion if patient has remained active
Intercostal	C7-L3
Accessory muscles of respiration	VII, XI, XII, C5-8	CoughSustain a vowelBlow against a tissue	1.0-1.5 L	Weak coughChange in speech phrasing (5-10 syllables per breath)
			0.5-1.0 L	Speech produced in syllable-by-syllable fashion (if vocal)Shortness of breath on swallowing

Modified with permission from Hillel AD, Miller RM: Bulbar amyotrophic lateral sclerosis: patterns of progression and clinical management. Head Neck 11:51–59, 1989. Copyright 1989. Reprinted by permission of John Wiley & Sons, Inc.

 Environmental assessment with a focus on energy conservation and safety at current and future functional capabilities.

Brinkmann and colleagues⁷⁰ identify standards for assessment of patients with ALS in clinical trials. The review and description of standardized methods for performing recommended tests and measurements is extremely valuable for any therapist assessing and treating patients with ALS.

In evaluating the results of the examination, the therapist should synthesize data to define the following, all of which are necessary for developing goals with the patient.

 Rate of the patient’s disease progression

 Distribution of weakness and spasticity, respiratory factors leading to hypoxemia, and ease of fatigability and bulbar involvement

 Phase of the disease

 Any preexisting impairments and/or activity limitations (see Chapter 8)

Therapeutic considerations

To prevent more rapid functional loss than expected from the natural history of the disease, both the patient and therapist must delicately balance the level of activity between the extremes of inadequate exercise and excessive exercise. Exercise has been recommended for the general public for its many benefits.⁷³ Inadequate exercise may result in loss of strength and endurance from disuse, as well as secondary problems such as loss of ROM, muscle cramping, and pain. Excessive exercise may result in excessive fatigue and consequent inability to perform ADLs during recovery periods. Overuse injury with excessive strengthening exercise may also lead to unnecessary pain and loss of strength. The next two sections review the evidence for the optimum amount of activity or exercise.

Disuse atrophy.

Because ALS is a disease of older adults, patients may not have maintained their aerobic fitness or muscle strength before the onset of their neuromuscular problem. Newly diagnosed patients also commonly report that they had markedly decreased their activity level in the months before diagnosis because of a sense of fatigue or increasing clumsiness from increasing weakness. If the patient had led a sedentary lifestyle before diagnosis, the additional decrease in activity level after the onset of ALS can lead quickly to marked cardiovascular deconditioning and disuse weakness. The disuse weakness lowers muscle force production and reduces muscle endurance.⁷⁴

Exercise or overwork damage.

Anecdotal evidence that muscle activity or overwork exercise can lead to a loss of muscle strength has been reported since the poliomyelitis epidemic of the 1940s and 1950s.⁷⁵ During that epidemic, physicians and therapists noted that patients with poor- and fair-grade muscles who exercised repeatedly or with heavy resistance after reinnervation often lost the ability to contract the muscle at all⁷⁶ (see Chapter 35). Controlled testing of this observation suggests that overwork damage occurs in mostly denervated muscles, not in all muscles. Reitsma⁷⁷ noted that vigorous exercise damaged muscles in rats if less than one third of motor units were functional. If more than one third of the motor units remained, exercise led to hypertrophy. An additional mechanism of potential overwork damage is inhibition of the collateral sprouting of intact axons to innervate “orphaned” muscle fibers when other axons degenerate. Yuen and Olney⁷⁸ provided evidence that collateral sprouting of intact axons can partially reinnervate orphaned muscle fibers in ALS. In a rat model, highly intensive activity reduced the ability of adjacent axons to sprout after fewer than 20% of intact motor units remained.⁷⁹ In contrast, vigorous exercise in a mouse model had no adverse effect on the course of ALS.⁸⁰ Lui and Byl⁸¹ systematically reviewed the literature reporting exercise effects in animal models of ALS and calculated an effective size of 1.39 (where numbers over 0.8 are considered large) in favor of exercise. The few negative effects they noted were associated with either very-high–intensity exercise or a slow rate of exercise (slower than usual activity for animals when unrestricted in activity). In addition to generic overwork, evidence exists that repeated maximal eccentric contractions may specifically damage even normal muscle fibers, resulting in muscle weakness of several weeks’ duration.⁸² Although normal muscle eventually adapts to repeated eccentric exercise, whether the reparative effect is possible in patients with neuromuscular diseases is uncertain. Aboussouan⁵⁵ reviews some of the specific mechanisms of exercise intolerance in neuromuscular diseases, including mitochondrial dysfunction, abnormal muscle metabolism, impaired muscle activation, and central activation failure.

Many researchers have expressed concern about the possible relation between high-resistance exercise and muscle fiber degeneration in humans with motor neuron disease.^83,84 Because of the concerns about damage from stressing substantially denervated muscles, Sinaki and Mulder⁸⁵ published recommendations in 1978 that patients with ALS not engage in any vigorous exercise and focus instead on exercise associated with walking and daily activities. On the other hand, McCrate and Kaspar⁸⁶ review the possible mechanisms by which exercise protects nerves from more rapid degeneration. Evidence regarding the positive benefits of exercise in ALS has been accumulating, with fewer adverse effects than some expected.

Sanjak and colleagues⁸⁷ reported that muscle damage does not necessarily result from resistance exercise testing or training, although fatigue occurs more easily during both anaerobic and aerobic exercise. Milner-Brown and Miller⁸⁸ found that mild progressive resistance exercise was helpful in neuromuscular disorders if the patient had muscle strength in the good (4/5) to normal (5/5) range. They determined that patients should begin their exercise program early because strength training of muscles with less than 10% of normal function was generally not effective. Aitkens and colleagues⁸⁹ noted strength gains of 4% to 20% without deleterious effects after a 12-week program of moderate-resistance (30% of maximum isometric force) exercises in patients with slowly progressive neuromuscular diseases. Kilmer and colleagues,⁹⁰ in the same population, found no additional advantage to high-resistance training (12 weeks of exercise using the maximum isometric force the individual was able to lift 12 times) and noted evidence of overwork in some subjects. In a case report of a patient with ALS, strengthening 6 days a week for 10 weeks with proprioceptive neuromuscular facilitation (PNF) patterns using maximal resistance applied manually or with tubing resulted in strengthening of 14 muscle groups out of 18 with no adverse effects.⁹¹ Aksu and colleagues⁹² compared a supervised versus home exercise protocol in 26 ambulatory ALS patients. They noted that supervised breathing exercises, stretching, manually applied resistance exercise with PNF, and functional mobility training 3 days a week for 8 weeks resulted in small gains in function in the first 4 weeks and a slower decline over the subsequent 10 months compared with home-based breathing, stretching, and active ROM exercises. The groups were not randomly allocated but were not significantly different in the measured variables at baseline.⁹² In a randomized controlled trial, Drory and colleagues⁹³ assigned 25 patients with ALS to a group continuing their normal daily activities or a group participating in a moderate daily program of exercise individualized for each patient. The primary exercise focus was to have muscles of the trunk and limbs work against “modest” loads while undergoing significant shortening (not lengthening or eccentric contractions). The exercises were completed twice daily for 15 minutes at home with phone contact by the treating therapist every 14 days. Data were evaluated for 3 and 6 months after initial assessment. All patients showed continued disease progression; however, in all cases, at the 6-month assessment patients who exercised showed positive effects in maintenance of muscle strength, less fatigue, less spasticity, less pain, and higher functional ratings.⁹³ In another randomized controlled trial, moderate load and moderate-intensity resistance exercises prescribed individually to patients with ALS in the early stages resulted in significantly less decline in function, small improvements in strength, and no reported adverse effects, compared with patients who performed stretching exercises alone.⁹⁴ A Cochrane review designated the quality of the Drory and colleagues (2001) study as “fair” and the Dal Bello-Haas and colleagues⁹⁴ study as “adequate.”⁹⁵ Table 17-2 summarizes some of the studies of strength training in neuromuscular diseases.

TABLE 17-2 

SUMMARY OF STRENGTH TRAINING STUDIES IN NEUROMUSCULAR DISEASES

AUTHOR	STUDY POPULATION AND SAMPLE SIZE	DURATION OF TRAINING	TRAINING MODALITY	TRAINING PROTOCOL	RESPONSE(S)
Vignos and Watkins, 1966291	Various neuromuscular diseases (NMDs) (24)	12 months	Weight training (multiple muscle groups)	Unspecified, but based on 10-repetition maximum (RM)	Strength increased; percentage increase correlated with initial strength
Milner-Brown and Miller, 198888	Various NMDs (12)	>12 months (variable)	Weight training (elbow flexion and knee extension)	Initially one set of 10 reps based on 15 RM performed on alternate days; gradually increased to a maximum of five sets 4 days/week; protocol individualized	Strength increased significantly when the initial degree of strength loss was not severe (<10%)
McCartney et al, 1988297	Various NMDs (12)	9 weeks	Weight training (arm curl and leg press)	3 days/week; initially two sets of 10-12 reps at 40% of 1 RM; gradually progressed to three sets of 10-12 reps (one set at 50%, 60%, and 70% of 1 RM); contralateral arm control	Strength and muscular endurance increased; considerable intersubject variability
Aitkens et al, 199389	Slowly progressive NMD (27) and able-bodied controls (14)	12 weeks	Weight training (elbow flexion, knee extension, grip one side only)	3 days/week; resistance at 30% of 1 RM; work increased commensurate with ability	Significant improvement in most isokinetic strength measures (not grip) in both groups; cross-training effect
Kilmer et al, 199490	Slowly progressive NMD (10) and able-bodied controls (6)	12 weeks	Weight training (elbow flexion, knee extension, one side only)	3-4 days/week; high-resistance exercise (resistance based on 12 RM; progressed from one to five sets of 10 reps)	Results mixed; increase in leg strength but decrease in arm strength in NMD
Lindeman et al, 1995325	MD (33) and HMSN (29); nonexercise control group	24 weeks	Weight training (knee extension and flexion, hip extension and flexion)	3 days/week; initially three sets of 25 reps at 60% of 1 RM; progressed to three sets of 10 reps at 80% of 1 RM	In MD group, no change in strengthIn HMSN group, increased strength of knee extensors; no adverse effects
Drory et al, 200193	ALS (25): randomly assigned to treatment or control groups	24 weeks	Moderate load, trunk and limbs, concentric contractions	Twice daily, 15 min per session	Treatment group: maintenance of strength, less fatigue, less spasticity, less pain, higher function
Aksu et al, 200292	ALS (26): convenience assignment to treatment and control groups	8 weeks	Breathing exercises, PNF, stretching, vs stretching and ROM and breathing exercises	3 days/week supervised vs home	Increased ROM, strength in treatment group; function sustained better in treatment group
Dawes et al, 2006326	Various NMDs: 11 randomly allocated to control group, nine to treatment group	8 weeks	Walking and strengthening exercises	Walking for 20 min at light to moderate intensity alternating days with progressive resistance and repetitions in strength	Treatment group had increase in leg muscle strength; no change either group in 2-min walk test
Dal Bello-Haas et al., 200794	ALS (27 early stage): randomly allocated to resistance exercises plus stretch or just stretch groups	24 weeks	PT-prescribed resistance exercises performed at home to patient tolerance	3 days/week resisted exercise plus stretch vs just stretch group	Slowed decline in treatment group and small strength gains

HMSN, Hereditary motor and sensory neuropathy; MD, myotonic dystrophy; PNF, proprioceptive neuromuscular facilitation; PT, physical therapist; ROM, range of motion.

Fewer researchers have considered endurance in neuromuscular disorders.⁷³ Sanjak and colleagues⁸⁷ noted that exercise energy requirements during bicycle ergometry testing were greater than expected, possibly because of motor inefficiency caused by weakness. Work capacity and maximal oxygen consumption were decreased, but heart rate, respiratory responses, and blood pressure were within normal limits. Wright and colleagues⁹⁶ found small positive physiological effects from an aerobic walking program in patients with slowly progressive neuromuscular disorders. Pinto and colleagues⁹⁷ provided eight ALS patients with NIV during exercise to compensate for respiratory insufficiency. Patients walked on a treadmill for 10 to 15 minutes to the point of subjective fatigue, leg pain, heart rate above 75% of resting value, or desaturation of oxygen not correctable with NIV. In comparison to a nonexercising control group, the exercising group had a significant reduction in the rate of decline of respiratory function test results, strength, and function over the 1-year training period.⁹⁷

Endurance training for longer than 10 to 15 minutes in patients with ALS may be restricted by central fatigue, the decreased ability to recruit all motor units or develop high discharge rates,⁹⁸ and not merely respiratory function. Sharma and colleagues⁹⁹ explored the mechanism of fatigue in ALS. Both maximum voluntary contraction and tetanic force decreased in patients with ALS compared with controls following a 25-minute low-intensity intermittent exercise, but with similar recovery. Fatigue may thus be a consequence of chronic denervation resulting in secondary muscle changes such as altered muscle metabolism and impaired calcium kinetics along with the loss of motor unit activation.⁹⁹

In addition to strength and endurance gains from exercise, ongoing, gentle exercise programs may also help decrease persistent pain and muscle stiffness that often accompany weakened, overtaxed muscle groups.¹⁰⁰ A case study of a patient with ALS undergoing a focused exercise program revealed a positive psychological effect on the patient’s coping strategies.¹⁰¹ Besides exercise programs, some preliminary evidence exists to suggest that creatine supplementation may increase isometric power in patients with ALS over the short term.¹⁰² Modafinil has been noted to have potential in helping with severe fatigue in ALS.¹⁰³

Many studies focus on the impact of exercise on muscle strength; however, knowledge of impairments does not necessarily correlate directly with functional status. Although some research has shown improvements in muscle force production with strengthening and endurance training, associated functional improvements were evident in some studies⁹² but not others.¹⁰⁴ Jette and colleagues⁸² calculated the percentage of predicted normal maximal isometric force (%PMF) relative to four walking levels in patients with ALS: unable to walk, walking within the home only, walking in the community with assistance, and independent walking in the community. Although they found great variation in muscle force production between and within the different levels of walking for each patient, they demonstrated that relatively small changes in force production were associated with losses of functional levels. For example, on average, when an independent ambulator began to need assistance in the community, the lower-extremity strength dropped to less than 54%PMF. When the patient became an in-home ambulator only, the average strength dropped to approximately 37%PMF, and it was approximately 19%PMF when the patient was no longer able to walk. Jette and colleagues⁸² acknowledge that many factors need to be considered when interpreting their work; however, their study relates functional skills to isometric muscle force production in a concrete way. Factors such as spasticity, age at onset of ALS, prior levels of fitness and activity, and psychological factors, including past responses to extremely challenging situations and satisfaction with social support, must also be considered.

Based on the evidence and current practice, exercise prescription in the early stages of ALS should address the following⁷²:

1. To improve compliance, include both a formal exercise program and enjoyable physical activities.

2. Include activities with opportunities for social development and personal accomplishment.

3. Strengthening programs should emphasize concentric rather than eccentric muscle contractions; use moderate resistance rather than high resistance; and focus on muscles that have at least antigravity strength.

4. Endurance programs should be monitored for signs of fatigue, more so when continuous activity lasts longer than about 15 minutes. Activity programs should include rest periods.

5. Patients should ensure that they have adequate oxygenation, aeration, and carbohydrate loads⁷³ as well as adequate fluids before exercising.

6. Muscle strength must be monitored to assess for possible overwork weakness; in unsupervised programs, patients must be instructed about signs and symptoms that indicate overwork, including feeling weaker within 30 minutes after exercise, having excessive soreness 24 to 48 hours after exercise, and experiencing severe muscle cramping, heaviness in the extremities, or prolonged shortness of breath¹⁰⁵; and therapists should check with an independently exercising patient regularly to assess whether any deterioration in strength may be from progression of the disease or overwork weakness.

If a patient shows evidence of significant, persistent weakness after institution of an exercise program or persistent morning fatigue after exercise on the previous day, the therapist must carefully redesign the patient’s exercise program and activity level and increase the frequency of monitoring the patient’s program. The program must be adjusted as the disease progresses. Figure 17-3 is a diagram showing the appropriate exercise “window” for use in working with a patient with a neuromuscular disorder.

Psychosocial issues

Giving the bad news of a terminal diagnosis is difficult for even the most experienced clinician. In dealing with the diagnosis of ALS, most physicians now believe that the diagnosis, prognosis, and possible patterns of progression should be shared with the patient and family or partners and caregiving friends. Only by knowing the truth can patients and families deal openly with one another and make plans for the future.¹¹⁸ McCluskey and colleagues¹¹⁹ suggest that those giving the medical or therapeutic diagnosis should attend to good practice parameters when giving bad news, such as creating the appropriate setting, identifying patient and caregiver needs, asking what patients and caregivers want to know, providing knowledge, exploring feelings of the patients and caregivers, and formulating a strategy for dealing with the situation. Patients and family members seldom remember what they are told when first given a terminal diagnosis. They do, however, remember how the information was given. Therefore information should be given honestly but with a sense of hope. All information need not be given at the time of diagnosis. Rather, the patient and family can be exposed to more in-depth information over a number of sessions when they have the opportunity to ask questions that occur during the assimilation process. Therapists, especially those working in isolation from a comprehensive clinic, should also follow these guidelines by providing information, helping the patient and family identify goals, and establishing a plan for intervention. Patients should know that the goals will have to be adjusted and plans reset as the disease process continues. If patients and families know that they can contact the therapist for support and advice, many of the negative aspects of the illness can be confronted in a positive manner. Preferably, an appointment for a follow-up visit will be set so patients and family members feel that contact with the care provider is expected.

Information about transitions related to nutrition, communication, and respiratory functions should be delivered to patients and families in time to make thoughtful decisions rather than just before a time of crisis, such as after a choking episode or during a respiratory arrest. Care should also be taken to respect the cultural and spiritual views of the patient and family.⁵⁸ Preferably, patients and family members will prepare an advance medical directive that should be reviewed with the physician at least every 6 months.¹²⁰

Therapists treating patients who do not have access to a multidisciplinary ALS clinic should remember that they are often the person who works most closely with the patient, and they should plan on spending enough time with the family to respond to concerns and help with problem solving. Patients will progress through the diagnostic process with different responses and at different rates on a continuum from taking a cognitive approach by asking many questions and reviewing the most current research to the extreme of marked denial and disinterest in participating in any medical or therapeutic recommendations.

Purtilo and Haddad¹²¹ identified four major fears of the patient who has a terminal condition: fear of isolation, fear of pain, fear of dependence, and fear of death itself. Patients with progressive diseases often see their social contacts decrease. Mr. Turner in Case Study 17-1 was concerned when he was no longer able to join his colleagues in the company cafeteria. After he received his motorized wheelchair he was able to continue his social contacts until his bulbar symptoms progressed to a point that he chose not to eat in public. When Mr. Turner lost the ability to speak and had to use his computerized speech system, he noticed that fewer colleagues stopped by his office to talk because of the slowness of the communication process. Although he understood the problem, Mr. Turner mourned the loss of friendship and his loss of standing as a competent computer expert. Because of his need for social contact, Mr. Turner continued to work until he could no longer tolerate the sitting position. His fear of isolation increased when he became homebound. Although colleagues came for visits regularly at first, as Mr. Turner progressed to a near locked-in state only a few close friends came by for brief visits. Mr. Turner’s greatest fear was being separated from his family and abandoned to hospital care with inconsistent staffing patterns. Fortunately, in his community, Mrs. Turner was able to set up visitations from several church members, clerics, and hospice volunteers.

Fear of uncontrolled pain is common among people with terminal diseases. Patients need assurance that their pain will be controlled. Fortunately, today pain medications can be administered in many forms, dosages, and frequencies that can be tailored to the patient’s specific needs. In a study of the final month of life with ALS, caregivers reported that a major emphasis of care was to eliminate as much pain and discomfort as possible, even if it shortened the patient’s life.¹²² Keeping a pain log of intensity, type, location, and time of pain may provide the physician with information necessary to best prescribe dosages. Many patients with ALS do experience significant pain from musculoskeletal sources, persistent spasms, or spasticity and pressure sores. Most of these problems can be handled with appropriate pain medications, muscle relaxants, careful positioning, frequent ROM exercises, and tissue massage. Undertreated and uncontrolled pain is associated with a patient’s seeking information on assisted suicide.¹²³ Some patients who expressed interest in assisted suicide options did not follow up because of religious beliefs and concerns about possible loss of life insurance coverage for surviving family members.¹²⁴

A major concern of patients with ALS is the dependence necessary for ADLs associated with late phase II and phase III of the disease. Because the process is gradual, most patients have the opportunity to make adjustments. The dependency issues and resulting privacy issues are more uncomfortable for some patients than for others, especially for the person who has always valued self-control and independence. Some patients are concerned about their increasing dependence because of the consequences of increasing burden of care on spouses or other caregivers.¹²⁵ That concern for others sometimes causes patients to choose hospital, nursing home, or in-patient hospice care over home care during the terminal stage of the disease. Not all patients with terminal illness react the same way during the dying process. Throughout the process, patients and family members may cycle back and forth through a range of different emotional and coping reactions: depression, anger, hostility, bargaining, and acceptance and adaptation (order is not implied).¹²¹ How the patient coped with life’s difficulties before the illness and her or his prior relationship patterns often direct how the patient will deal with the terminal illness. In one study, patients adjusted most successfully to the changes in their functional status if they did not look back to the past and compare their losses to their future.¹²⁶

Health care providers and family members often have great difficulty coping with a patient who is depressed; they may make repeated efforts to “talk the person out of” the depression. Medical professions must be able to distinguish between depression that can be destructive and the mourning or grieving that is a necessary and vital response to dealing with loss. In both states the person may feel a level of withdrawal, sadness, apathy, loss of interest in activities, and cognitive distortions. In a depressive state, however, the patient experiences an accompanying loss of self-esteem. A person in mourning rarely experiences that loss of self-esteem essential to a diagnosis of depression. The grieving person’s feelings are congruent with the degree of loss experienced.¹²⁷ A person who grieves for what is lost but who has adapted to the prognosis may make plans for the impending death. Such behaviors are positive coping strategies. However, depressive symptoms related to hopelessness, uncontrolled suffering, and perceived burden on caregivers are more related to a choice for treatment discontinuance of feeding or ventilatory support.¹²⁴

The issue of depression is complicated by the pseudobulbar effect of emotional lability (inappropriate laughing and crying), which is manifested by approximately 50% of patients with ALS. This emotional lability is not under complete control of the patient and is often misunderstood by family members and caregivers. Although current treatment is antidepressant medications, underlying clinical depression may or may not be present that would respond to higher doses of antidepressant medication and counseling.¹²⁰

Yet, pressuring a patient who appears depressed to see a mental health clinician can lead to loss of trust if the patient is not comfortable talking about feelings or confiding in a counselor. Therefore, OTs and PTs and other persons involved in the direct care of a dying patient may find that their patients feel safer talking with nonprofessional counselors or psychotherapists about the burden of their care on family members or their own impending death. Rehabilitation personnel should, therefore, be aware of local options for in-home support services, palliative care, and end-of-life options and services and be prepared to listen to the patient’s concerns if the patient expresses the need for emotional support.

Caregiver issues

Often in the concern for the patient’s needs, health care professionals pay little attention to the effect a person’s degenerative illness has on other members of the family. ALS significantly affects the person’s extended family because the patient gradually becomes increasingly dependent on family members, partners, or caregiving friends for physical care, social arrangements, cognitive stimulation, and emotional support. For some families, the spouse may have to take on additional work, return to work, or, in the case of some older women, join the workforce for the first time to deal with the financial stresses that occur when chronic illness invades the family unit. Family members must absorb the former family duties of the dependent person. For example, a spouse or child may have to handle all the cooking, cleaning, or other household chores or work to help support the family. Once the patient becomes dependent, the caregiver may need to reduce or discontinue employment to take care of the patient. All family members may have to become involved in the physical care of the increasingly dependent person with ALS.

Children of patients with ALS also have to deal with major changes in their lifestyle. Although they may love their parent who is sick, at some level most are frustrated with factors such as the need to provide physical care to parents. This is a difficult problem for children who have not had a positive relationship with that parent. Children living in the home of a parent who is dying of ALS also express frustration about the lack of privacy in their home when nursing personnel and attendants are present, interruptions in family and personal life plans, embarrassment because of the parent’s appearance and dependency, lack of attention from the caregiving and working parent, and fear of financial crises (e.g., possible loss of home, no financial support for college).

The entire family is affected by the sick person’s increasing dependency and impending death. In a small study of 11 family caregivers, many caregivers felt frustrated and resentful because their lives were consumed with the caregiving responsibilities. Most caregivers had adjusted to some degree after 2 to 4 years. Caregivers who adjusted most successfully learned to take time for themselves without guilt and to tap their social support systems for help.^126,128 Similarly, 40 caregivers of young adults with severe disabilities reported being overwhelmed by the physical requirements of daily care and felt a severe loss of spontaneity in their lives.¹²⁹ They also reported a sense of isolation from everyday social interactions. Although they highly valued their social support systems, they expressed frustration that few people offered instrumental or direct service support, such as respite care or help with medical appointments, housekeeping, or shopping. Despite the stresses of caregiving, the caregivers felt positive about their roles in helping the dependent adult by finding meaning in their acts of caregiving.¹²⁹ Fortunately, most families manage to cope with the process—the major contributing factor being the coping ability of families before the illness. To be really effective, the therapist working with the patient with ALS must be prepared to help families and caregivers find appropriate ways of coping with the emotional, social, and physical stress of caregiving. For example, therapists should present, without pressing, adaptive equipment options to patients when they first start to show impairment in functional ability. If shown how the equipment will help them maintain independence, most patients are receptive to its use. Even when presented in a positive way, however, a wheelchair or adaptive devices may be resisted long after the adaptations would facilitate mobility and ADLs. Therapists must be attentive to patients’ feelings and fears at this time because use of a wheelchair heralds to many patients the beginning of the end.

Other factors that affect the family of a patient with ALS include medical insurance and differing levels of long-term care coverage. Some families are fortunate to have excellent coverage that provides extensive home nursing support, whereas other families are unable to cope with the financial stresses and must accept public assistance during the final stages of the disease. As opposed to Germany and Japan, which provide long-term nursing care insurance, in the United States financial stress on patients with ALS can reach more than $150,000 per year for ventilation support at home.⁶³ Financial burden significantly impacts patient and caregiver decisions. (See Case Study 17-1 and end-of-life issues resources at www.nlm.nih.gov/medlineplus/endoflifeissues.html#cat1.)

Clinical presentation

GBS in both children and adults is characterized by a rapidly evolving, relatively symmetrical ascending weakness or flaccid paralysis. Motor impairment may vary from mild weakness of distal lower-extremity musculature to total paralysis of the peripheral, axial, facial, and extraocular musculature. Severe fatigue is present in 38% to 86% of patients with GBS, depending on the cutoff point used to define severity and the age of the sample, with a positive correlation between severe fatigue and age.¹⁴¹ Tendon reflexes are usually diminished or absent. Twenty percent to 38% of patients may require assisted ventilation because of paralysis or weakness of the intercostal and diaphragm musculature.^142,143 Impaired respiratory muscle strength may lead to an inability to cough or handle secretions and to decreased vital capacity, tidal volume, and oxygen saturation. Secondary complications such as infections or organ system failure lead to death in approximately 5% of patients with GBS.¹⁴⁴ Approximately 35% to 50% of patients develop some cranial nerve involvement, primarily facial muscle weakness, although patients may also develop oropharyngeal and oculomotor involvement.^143,145

ANS symptoms are noted in approximately 50% of patients. Low cardiac output, cardiac dysrhythmias, and marked fluctuations in blood pressure may compromise management of respiratory function and can lead to sudden death. Other typical ANS symptoms may result in peripheral pooling of blood, poor venous return, ileus, and urinary retention.¹⁴⁶

Sensory symptoms such as distal hyperesthesias, paresthesias (tingling, burning), numbness, and decreased vibratory or position sense are common. The sensory disturbances often have a stocking-and-glove pattern rather than the dermatomal distribution of loss. Although the sensory problems are seldom disabling, they can be disconcerting and upsetting to patients, especially during the acute stage.^147,148

Pain was identified as a significant presenting symptom reported in the original articles describing GBS. When pain was prominent, patients spontaneously revealed its presence during a medical history. Therefore therapists who may be working with patients with an onset of low back pain not associated with known injury or stress and reports of paresthesias (pins and needles) and vibratory or decreased tendon reflexes should evaluate or monitor for possible GBS.^149,150

The most common description of presenting pain was of muscle aching typically associated with vigorous or excessive exercise. Pain was usually symmetrical and reported most frequently in the large-bulk muscles such as the gluteals, quadriceps, and hamstrings and less often in the lower leg and upper-extremity muscles. Some pain reported during late stages of the illness was described as “stiffness.” Pain was consistently more disturbing at night.¹⁵⁰ As the disease progresses, some patients experience severe burning or hypersensitivity to touch or even air movement, which can interfere with nursing care and limit therapy interventions. The types of pain reported include paresthesias, dysesthesias, axial and radicular pain, joint pain, and myalgias.¹⁵¹ Dysautonomia (orthostatic hypotension, blood pressure instability, cardiac arrhythmias and sometimes bowel and bladder dysfunction) is relatively common in patients with GBS requiring ventilatory support; in one prospective study of 297 patients, cardiac arrest associated with dysautonomia was the leading cause of death.¹³⁷ In patients with paraplegia or quadriplegia, approximately one fourth had problems with urinary retention caused by detrusor areflexia or overactivity, overactive urethral sphincter, and disturbed bladder sensation.¹³⁴ The possibility of deep vein thrombosis (DVT) and pulmonary embolus must also be monitored and prophylactic treatment used.¹⁵²

Medical prognosis

Although some patients have a fulminating course of progress with maximal paralysis within 1 to 2 days of onset, 50% of patients reach the nadir (the point of greatest severity) of the disease within 1 week, 70% by 2 weeks, and 80% by 3 weeks.¹⁴⁵ In some cases the process of increasing weakness continues for 1 to 2 months. Onset of recovery is varied, with most patients showing gradual recovery of muscle strength 2 to 4 weeks after progression has stopped or the condition has plateaued. Although 50% of the patients may show minor neurological deficits (e.g., diminished or absent tendon reflexes) and 15% may show persistent residual deficits in function, approximately 80% become ambulatory within 6 months of onset of symptoms. The most common long-term deficits are weakness of the anterior tibial musculature and, less often, weakness of the foot and hand intrinsics, quadriceps, and gluteal musculature. Three percent to 5% of patients die of secondary cardiac, respiratory, or other systemic organ failure.^134,151 Fatigue or poor endurance was also noted as a long-term consequence of GBS, possibly attributable to deconditioning and peripheral fatigue related to muscle fatigue during the healing process.^141,153 Vasjar and colleagues¹⁵⁴ also report that fatigue and poor exercise tolerance were common persisting symptoms in children who appeared to have fully recovered from acute GBS.

Although often not the focus of most studies on the long-term impact of GBS, sensory deficits (impaired response to pinprick, light touch, and vibration and proprioception in combination with other sensory losses) are an ongoing problem for patients 3 to 6 years after recovery from acute GBS. In a study of 122 subjects, 38% showed sensory deficits in the upper extremities¹⁵⁵ and 66% had ongoing sensory deficits of the lower extremities.¹⁵¹ The muscle aches and cramps experienced by some of these patients appeared to be related to sensory rather than persistent motor dysfunctions as usually thought.

Overall, factors associated with a poor prognosis are severity of muscle weakness (especially quadriplegia), the need for respiratory support, cranial nerve involvement associated with loss of eye movement and swallowing, rapid rate of progression from onset, length of time to nadir, older age at onset, history of gastrointestinal illness, and recent cytomegalovirus infections.^134,142 In a prospective study of 297 patients with GBS in Italy, disease severity was not associated with time to clinical recovery, but it did predict ultimate outcome, along with shorter length of time to nadir, older age at onset, evidence of axon damage, and recent gastroenteritis.¹³⁷

Medical management

Medical treatment depends on the rate and degree of ascending paralysis. Because most patients return to their prior functional status, excellent supportive care during the acute stage is imperative. Respiratory compromise should be expected, and all patients, including those with limited paralysis and sensory dysfunction, must be closely monitored for the rapid onset of pulmonary and cardiac decompensation or cardiac arrhythmias, paroxysmal or orthostatic hypotension, urinary retention, and paralytic ileus caused by dysautonomia.¹⁵² Because of the possibility of sudden respiratory failure, patients with evidence of GBS must be hospitalized so that immediate cardiorespiratory support can be given if functional vital capacity (FVC) falls below 20 mL/kg or oxygen saturation falls below 75%.¹⁴⁴ Patients who progress to respiratory paralysis must be treated in an intensive care environment where adequate respiratory function can be maintained, secondary infections can be prevented or limited, and metabolic functions can be carefully monitored. The patient should be intubated if the FVC falls below 12 mL/kg or if the patient is increasingly dyspneic even if FVC is above the cutoff level.^145,156 Twenty-five percent of patients who experience respiratory failure will develop pneumonia.¹⁵¹ Even if daytime respiration seems adequate, night-time respiratory insufficiency (sleep-disordered breathing) should be ruled out if patients have persistent sleepiness or fatigue.¹⁴¹

Patients with GBS in the intensive care unit (ICU) on ventilation and with varying levels of paralysis and sensory dysfunction feel trapped and out of control because they cannot express their needs. These patients can usually hear well and most can see what is happening around them. They benefit from being oriented to time, having the personnel explain all procedures, and having some means of obtaining help. Therapists can work with the ICU staff to provide the patient with alternative forms of communication, such as eye blink, clicking, and communication boards designed for their needs. Having some form of communication and knowing that they will not be left alone will help prevent traumatic stress reactions.¹⁵²

In addition to the intensive monitoring of progression and supportive care required for patients with GBS, two specific immunotherapy-based treatments—plasma exchange (removal of plasma from withdrawn blood with retransfusion of the formed elements back into the blood) and intravenous immunoglobulin (IVIg) (taking blood from a vein, separating plasma, and returning the blood cells with a plasma substitute)—have been under investigation for their ability to decrease the duration of respirator dependence and the time to onset of improvement. Systematic reviews of these interventions as of 2010 have found that plasma exchange decreases recovery time and is most beneficial if begun within the first week of diagnosis and can be beneficial up to 30 days after diagnosis.¹⁵⁷ Plasma exchange is also cost-effective as used in patients with mild, moderate, or severe courses of GBS.¹⁵⁸ IVIg is somewhat safer and easier to administer than plasma exchange; IVIg speeds recovery by the same amount of time as plasma exchange and is more effective than supportive care only. Adding IVIg to plasma exchange did not improve time to recovery any more than either treatment alone.¹⁵⁹ High-quality evidence is available to support IVIg use in adults with GBS; the quality of evidence is slightly less high to support its use in children with GBS.¹⁶⁰

Although corticosteroids have been used to decrease the inflammatory process in GBS since the 1960s, a review of clinical studies of corticosteroid effectiveness showed that corticosteroid treatment alone does not hasten recovery from GBS.¹⁶¹ Hughes and colleagues have developed practice parameters associated with these findings.¹⁶²

Therapeutic management of movement dysfunction associated with guillain-barré syndrome

Therapeutic management of the movement deficits associated with GBS includes supportive management during the acute phase, prevention of long-term medical comorbidities during the acute through early recovery stages, and rehabilitation throughout recovery.¹⁶³ With the assumption that the patient will have significant return of function within months, therapists must help maintain the integrity of functioning systems, address pain, teach compensatory strategies, and appropriately promote increasing activity after the plateau. The immediate needs of the patient will change as the patient moves through the acute stage, the plateau at the nadir, and the recovery stage of GBS before and after muscles attain antigravity strength. Transitioning between the changes in immediate therapeutic goals necessitates careful examination of the current status, progression of disease, and needs of the patient.

Examination

A comprehensive examination of the patient’s movement and function includes factors shown in Box 17-4. The extent of the examination in any one session depends on the patient’s condition and ability to participate. History taking should include the course of the disease, along with any recent illness, preexisting neuromotor or other medical conditions, current concerns, and the patient’s immediate goals. Screening tests can help determine whether sensory and autonomic systems are involved along with motor systems. Checking vital signs at rest and immediately after activity, assessing skin integrity especially in immobile patients, screening cranial nerve performance, and noting communication ability are all important components. Additional testing of sensation (and documentation on a body chart, for example) or autonomic systems may be required if the screening tests indicate.

In GBS, assessment of muscle strength and ROM as specifically as possible is important so the patient’s course of progression or improvement can be tracked, possible patterns leading to contractures can be predicted and prevented, and the appropriate level of exercise can be implemented. MMT, dynamometry, or isokinetic testing could be useful in various stages; goniometry is typically used for ROM testing. Full MMT and joint ROM may require several sessions in the initial stages, and a few specific muscles and joints may be selected (e.g., sternocleidomastoids, deltoids, triceps, flexor carpi ulnaris, lumbricals, iliopsoas, gluteus medius, anterior tibialis, flexor hallucis longus; shoulders, fingers, ankles) to test for changes weekly.

Several factors may interfere with complete assessment in the initial stage. Patients who report considerable pain during handling or active movement may not tolerate or may be unwilling or unable to cooperate with testing. The therapist should track the patient’s level of pain, for example, on a numerical rating of pain scale, to help distinguish between weakness and loss of ROM related to pathological condition, immobility, or pain.

Fatigue and respiratory difficulties may also preclude complete strength assessment in a single session. Fatigue may result from deconditioning, increased effort required to perform similarly with weakened muscles, and inability to recruit sufficient motor units to maintain contractions.¹⁶⁴ Fatigue can be documented in relation to amount of activity tolerated (with specific symptoms noted before rest is required) or with a questionnaire such as the Fatigue Severity Scale (FSS), Fatigue Impact Scale (FIS), or the Visual Analogue Scale for Fatigue (VAS-F).¹⁴¹ Functional tests may include standardized scales of independence in ADLs or balance, tests of manual dexterity, and temporal measures of gait. Chehebar and colleagues¹⁶³ review some of the pros and cons of standardized tests such as the Barthel Index, modified Hughes scale of GBS disability, and the Functional Independence Measure. Health-related quality-of-life measures used in related populations include the Nottingham Health Profile and the SF-36.¹⁶⁴ Forsberg and colleagues¹⁶⁵ provide a comprehensive list of tests they administered in a prospective study of 42 patients followed for 2 years after the onset of GBS. At 2 weeks postonset, 40 of 42 patients had submaximal scores on total muscle strength, grip strength, balance, and gait speed testing. At 2 months, total muscle strength was still most affected, whereas 25% of the patients had regained maximal grip strength, balance, and gait speed (designated as 1.4 to 1.5 m/sec). By 2 years, over half of the subjects still lacked the maximum total muscle score, and 40% claimed fatigue. Sensory deficits were claimed by up to 36% of patients at 2 years.¹⁶⁵

Changes in the patient’s condition should be monitored with serial MMT, ROM assessments, sensory testing, and functional status examinations. See Karni and colleagues¹⁶⁶ for suggestions on serial functional assessments. Before the patient is discharged from the hospital or rehabilitation unit, therapists should complete an assessment of the patient’s home environment so that appropriate safety and adaptive equipment can be in place in time for the patient’s return home.

Intervention goals

General goals for the care of the patient with GBS, to be specified with reference to the patient’s preferences, include the following:

Adaptive equipment and orthoses

Judicious use of orthotic devices and adaptive equipment should be considered an integral part of the rehabilitation process. The purpose of the orthotic and adaptive devices is twofold: (1) to protect weakened structures from overstretch and overuse and (2) to facilitate ADLs within the limits of the patient’s current ability. Orthotic devices and adaptive equipment should be introduced and discontinued on the basis of serial evaluations of strength, ROM, and functional needs. For example, a hospitalized patient who has poor (2/5) middle deltoid strength may practice upper-extremity activities such as eating while using suspension slings. A thumb position splint may be used temporarily to aid thumb control in grasping tasks.

Most patients will need a wheelchair for several months until strength and endurance improve. As strength returns, patients recovering from severe paralysis may need to change from use of a wheelchair with a high, reclining back with a head rest to use of a lightweight, easily maneuverable chair. A quandary for the therapist is to predict how long a wheelchair will be necessary and whether it should be rented or purchased as the patient progresses through different stages of recovery. While moving from wheelchair mobility to independent ambulation, patients will usually progress from parallel bars to a walker with a seat to allow frequent resting, and then to crutches or a cane. Because wheelchairs, walkers, crutches, and canes, especially custom appliances, are expensive and not always covered by insurance, the therapist should carefully consider the cost to the patient during the recovery process.

Although most patients with GBS are able to walk within 8 months of onset, many show a prolonged residual weakness of calf and, most commonly, anterior compartment musculature, requiring the use of an AFO. The decision whether to use a prefabricated orthosis or custom appliance is not always simple. Several temporary orthotic measures can be considered. For example, if the patient shows good gastrocnemius-soleus strength with mild weakness of the dorsiflexors, a simple elastic strap attached to the shoelaces and a calf band may be sufficient to prevent overuse of the anterior compartment muscles. An old-fashioned, relatively inexpensive spring wire brace, which can be attached to the patient’s shoes to facilitate dorsiflexion, is a good choice for patients who report sensory hypersensitivity when wearing a plastic orthosis.

Most therapy units today have access to varied sizes of plastic, fixed-ankle AFOs that can be used until a decision is made to have the patient fitted with custom AFOs. A newer system of prefabricated AFOs with adjustable ankle motion cams has been developed that allows the therapist to limit plantar flexion and dorsiflexion to the specific needs of the patient. For patients with reasonable control of plantar flexion and dorsiflexion but with lateral instability because of peroneal weakness, a simple ankle stirrup device such as the AirCast Air-Stirrup Ankle Brace (AirCast, Summit, NJ) can be used temporarily to provide lateral ankle stability. Although few patients with GBS need knee-ankle-foot orthoses (KAFOs) on a long-term basis, inexpensive air splints or adjustable long-leg metal splints to control knee position are sometimes helpful when working on standing weight bearing and during initial gait training. See Chapter 34 for additional information on orthotics.

Psychosocial issues

Although most patients with GBS have a good recovery over a period of 2 or more years, the acute stage of the disease can be frightening, especially to patients who progress to complete paralysis and respiratory failure. Nancy, in Case Study 17-2, reported that she was terrified during the time she was totally paralyzed (including eyelid movement) and on a respirator. She said that nurses, doctors, and hospital staff seemed to assume she could not hear because she was unable to respond in any manner. In her words,

Skirrow and colleagues²⁰⁶ remind clinicians that the “intensive care patient is plunged into a world of machines that flash and beep; of tubes and wires that seem to spring from almost every orifice; and of mind-numbing sedative and analgesic medications.” Needless to say, evidence is increasing that patients treated in acute trauma rooms or ICUs can have posttraumatic stress disorder (PTSD). Particularly vulnerable are patients who have had previous traumatic experiences. PTSD places patients at marked risk for increased startle responses, extreme vigilance or anticipation of painful events, sleep disorders, terrifying dreams, and dissociative flashbacks after leaving the ICU; sometimes these symptoms are left untreated for years after the experience.^152,207 Patients discharged from prolonged ICU experiences, especially those who had respiratory failure, have an increased incidence of anxiety, depression, and panic disorders years after discharge.

In a nursing study of patient experiences in the ICU, researchers found that patients often felt anxious, apprehensive, and fearful. The patients expected ICU nurses to be experienced and technically adept, but those who felt most secure despite the traumatic ICU experiences felt that the nurses were vigilant to their needs and offered personalized care,^152,208 a point clearly made by Nancy in the case study. Although one might expect ICU staff to be carefully tuned in to patient needs, the highly technical nature of modern ICUs may attract personnel less focused on individual patient care, or it may prevent caring staff from attending to the little kindnesses that are so comforting to critically ill patients. Baxter²⁰⁷ suggests that caregivers in the ICU try to orient patients to what is being done, to approach the patients within their field of vision, and to minimize unexpected noises and sudden touching.

Although most patients recover well from GBS, 3 to 6 years after onset of GBS 38% of patients in a Dutch study had to make a job change to accommodate their physical status, 44% had to alter their leisure activities, and nearly 50% described ongoing psychosocial changes.²⁰³ Similar findings were reported in a study of Japanese patients recovering from GBS.^209,210

In summary, the rehabilitation program for a person with GBS must be graded carefully according to the stage of illness. In the acute care environment when respiratory deficits are present, the initial emphasis is directed toward support of maximal respiratory status through postural drainage, chest stretching, and breathing exercises. Because of prolonged bed rest and immobility related to weakness, accessory and physiological ROM must be maintained with around-the-clock efforts. Splinting or positioning devices are recommended to maintain functional positions during prolonged periods of immobility. A gradual program to increase upright tolerance is begun when respiratory and autonomic functions have stabilized. Therapists must keep in mind the potential to damage denervated muscles with aggressive strengthening programs when developing a rehabilitation plan and a home-based conditioning program. Perhaps as a result of cautious exercise programs, cardiovascular conditioning appears to lag significantly behind strengthening, so endurance training should specifically follow the return of strength. Adaptive equipment and orthoses should be used as needed to protect weakened muscles, facilitate normal movement, and prevent fatigue during the reinnervation process. Although a rehabilitation program has been found to make a measurable difference in patient long-term recovery, many patients are being discharged without follow-up care.²¹¹ Therefore therapists should be assertive in ensuring that their patients with GBS have ongoing contact with rehabilitation specialists who can guide the recovery process (see Case Study 17-2).