Station 3.23: Friedreich’s ataxia

Question 1

Clinical signs

**What is the clinical signs of Friedreich’s ataxia?

Friedreich’s ataxia

Examine this young man’s neurological system.

Answer 1

• Young adult, wheelchair (or ataxic gait)
• Pes cavus
• Bilateral cerebellar ataxia (ataxic hand shake + other arm signs, dysarthria, nystagmus)
• Leg wasting with absent reflexes and bilateral upgoing plantars
• Posterior column signs (loss of vibration and joint position sense)

Question 2

other signs

What is the Other signs of Friedreich’s ataxia?

Friedreich’s ataxia

Examine this young man’s neurological system.

Answer 2

• Kyphoscoliosis
• Optic atrophy (30%)
• High‐arched palate
• Sensorineural deafness (10%)
• Listen for murmur of HOCM
• Ask to dip urine (10% develop diabetes)

Question 3

Discussion

Discussion of Friedreich’s ataxia?

Friedreich’s ataxia

Examine this young man’s neurological system.

Answer 3

Inheritance is usually autosomal recessive
Onset is during teenage years
Survival rarely exceeds 20 years from diagnosis
There is an association with HOCM and a mild dementia

Question 4

Discussion

Causes of extensor plantars with absent knee jerks ?

Friedreich’s ataxia

Examine this young man’s neurological system.

Answer 4

• Friedreich’s ataxia
• Subacute combined degeneration of the cord
• Motor neurone disease
• Taboparesis
• Conus medullaris lesions
• Combined upper and lower pathology, e.g. cervical spondylosis with peripheral neuropathy