Friedrich's Ataxia

Question 1

What clues would suggest a diagnosis of Friedrich’s ataxia over a bilateral cerebellar syndrome?

Answer 1

Hearing or visual aids
Walking aids
Foot orthoses
Pes cavus- due to longstanding peripheral neuropathy
High arched palate

Question 2

What gait would be seen in Friedrich’s ataxia?

Answer 2

Broad based- mixed cerebellar and sensory ataxia

Question 3

What features would you see on limb examination of a patient with Friedrich’s ataxia?

Answer 3

Wasting and pyramidal (UMN) weakness- affecting the lower limbs more markedly.
Reduced/absent reflexes- especially knee and ankle with extensor plantar response in majority

Question 4

What sensory modality is affected first in Friedrich’s ataxia?

Answer 4

Vibration sense and proprioception (posterior columns) before light touch, pain and temperature

Question 5

What conditions are associated with Friedrich’s ataxia?

Answer 5

DM
Optic atrophy
Hypertrophic cardiomyopathy
Sensorineural deafness

Question 6

What is the genetics of Friedrich’s ataxia?

Answer 6

AR

Trinucleotide repeat on chromosome 9

Question 7

What is the age of onset of Friedrich’s ataxia

Answer 7

10-15, almost always before 20yo

Usually present with gait ataxia

Question 8

What is the prognosis of Friedrich’s ataxia?

Answer 8

Variable- most wheelchair bound 15 years from onset.

Death usually in 4th decade

Question 9

What is another example of an early onset recessive ataxia other than Friedrich’s ataxia?

Answer 9

Refsum’s disease