Friedreich’s ataxia

Published on 05/05/2015 by admin

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Last modified 05/05/2015

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68 Friedreich’s ataxia

Instruction

Perform a neurological examination of this patient’s legs.

Salient features

History

• Age of onset (usually the same in each family and ranges from 8 to 16 years of age)

• High-arched foot in childhood in the family (Friedreich’s foot) (Fig. 68.1)

• Scoliosis developing in childhood

• Cerebellar dysarthria (p. 210) and ataxia (p. 201).

Fig. 68.1 Foot deformity in Friedreich’s ataxia.

(With permission from Bradley et al. 2008.)

Examination

• Pyramidal weakness in legs

• Cerebellar signs, ataxia being a constant sign

• Impaired vibration and joint sense

• Romberg’s sign positive

• Absence of deep tendon reflexes (caused by degeneration of peripheral nerves)

• Distal muscle wasting (in 50% of cases), especially in the hands.

Proceed as follows:

• Check for nystagmus (present in 25% of the cases), scanning speech, intention tremor

• Examine the heart for hypertrophic cardiomyopathy (Fig. 68.2)

• Check the eyes for optic atrophy (present in 30% of cases)

• Check the spine for kyphoscoliosis

• Check the urine for sugar (10% of patients have diabetes)

• Check IQ, looking for intellectual deterioration

• Tell the examiner that you would like to do a 25 ft (7.5 m) walk test to determine ambulatory capacity.

Fig. 68.2 ECG in Friedreich ataxia, showing widespread ST and T changes.

Remember: Friedreich’s ataxia is the most common genetic cause of ataxia, affecting approximately 1 : 30 000 people. Symptoms that affect mobility include ataxia, spasticity and peripheral neuropathy.

Diagnosis

This patient has kyphoscoliosis, pes cavus and a combination of pyramidal, cerebellar and sensory deficits (lesions) in the lower limbs caused by Friedreich’s ataxia (aetiology); he is severely disabled by his deformity.

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