Facioscapulohumeral dystrophy (Landouzy–Déjérine syndrome)

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64 Facioscapulohumeral dystrophy (Landouzy–Déjérine syndrome)

Instruction

Perform a neurological examination of this patient’s cranial nerves and upper limbs.

Salient features

History

• Age of onset (usually between 10 and 40 years of age)

• Family history (parents or siblings may only have facial weakness)

• Weakness begins in the face and affects the shoulder girdle subsequently (particularly the lower trapezii, pectoralis, triceps and biceps).

Examination

• In the face:

• Prominent ptosis
• Difficulty in closing the eyes
• Marked facial weakness, resulting in a dull expressionless face with lips open and slack, and inability to whistle or puff the cheeks
• Speech is impaired owing to difficulty in articulation of labial consonants.

• In the neck:

• Wasted sternomastoids and marked weakness of neck muscles.

• In the shoulder girdle (Figs 64.1 and 64.2):

• Winging of the scapula
• Lower pectorals and lower trapezii severely affected
• Weakness of triceps and biceps
• True hypertrophy of deltoids to compensate for other muscles
• Absent biceps and triceps jerk.

• In the trunk:

• Weakness (lower abdominal muscles are weaker than upper abdominal muscles, resulting in the Beevor sign; a physical finding very specific for this condition), which is a marked upward movement of the umbilicus following neck flexion of the patient in a lying position.

• Uncommon features: congenital absence of pectoralis, biceps or brachioradialis; tibialis anterior may be the only muscle involved outside the shoulder girdle

• Tell the examiner that you would like to evaluate for:

• high-frequency hearing loss (in ~75%)
• retinal telangiectasias (in ~60%)
• sleep apnoea.
image

Fig. 64.1 Facioscapulohumeral dystrophy: the downward-sloping clavicles and bulge in the region of the trapezius muscle is caused by the scapula being displaced upward on attempted elevation of the arms. The patient also is attempting to purse his lips.

(With permission from Bradley et al. 2008.)

image

Fig. 64.2 Asymmetrical scapular winging in facioscapulohumeral muscular dystrophy.

(With permission from Bradley et al. 2008.)

Diagnosis

This patient has weakness of the muscles of the face, neck and shoulder girdle (lesion) caused by inherited facioscapulohumeral dystrophy (aetiology).

Questions

What is the mode of inheritance?

Autosomal dominant; both sexes are equally affected. The gene has been recently localized to the long arm of chromosome 4.

Are higher mental functions affected in this condition?

The IQ is normal in such patients.

What is the lifespan in such a patient?

Normal.

What is the age of onset of this disorder?

Between 10 and 40 years.

Are levels of muscle enzymes raised in this condition?

The enzyme levels remain normal usually. About half of those affected show a very slight increase.

What do you know about the genetics of this condition?

It results from a partial deletion of an integral number of 3.3 kb polymorphic D4Z4 repeats, within the subtelomeric region of chromosome 4q. Whereas healthy individuals normally have EcoRI digestion fragments of D4Z4 consisting of 11 to 150 U, patients with facioscapulohumeral dystrophy have fragments of 1 to 10 U. However, it has been noted that, although molecular diagnosis of the disease is often cited to be 98% accurate, the search for the gene during testing is sometimes hampered by sequence homologies between the suspected 4q35 region and other chromosomal regions. Although the genetic lesion is well described, the causal gene and the protein products are not known.

Louis Théophile Joseph Landouzy (1845–1917), Professor of Therapeutics in Paris; although remembered for the description of the syndrome which bears his name, his major research interest was TB.

Joseph Jules Déjérine (1849–1917), a French neurologist, was a pioneer in the localization of function in the brain. This syndrome was described in 1885.

Charles Edward Beevor (1854–1908) first documented the finding of an upward deflection of the umbilicus on flexion of the neck in spinal cord injury at or below the level of Th10. Apart from positive Beevor’s sign as a result of spinal cord lesions positive Beevor’s sign has also been described in patients with facioscapulohumeral muscular dystrophy.

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64 Facioscapulohumeral dystrophy (Landouzy–Déjérine syndrome)

Instruction

Perform a neurological examination of this patient’s cranial nerves and upper limbs.

Salient features

History

• Age of onset (usually between 10 and 40 years of age)

• Family history (parents or siblings may only have facial weakness)

• Weakness begins in the face and affects the shoulder girdle subsequently (particularly the lower trapezii, pectoralis, triceps and biceps).

Examination

• In the face:

• Prominent ptosis
• Difficulty in closing the eyes
• Marked facial weakness, resulting in a dull expressionless face with lips open and slack, and inability to whistle or puff the cheeks
• Speech is impaired owing to difficulty in articulation of labial consonants.

• In the neck:

• Wasted sternomastoids and marked weakness of neck muscles.

• In the shoulder girdle (Figs 64.1 and 64.2):

• Winging of the scapula
• Lower pectorals and lower trapezii severely affected
• Weakness of triceps and biceps
• True hypertrophy of deltoids to compensate for other muscles
• Absent biceps and triceps jerk.
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