Friederichs ataxia

Question 1

Definition of Friederichs ataxia

Answer 1

Autosomal recessive condition
Trinucleotide repeat -> Frataxin deficiency

Question 2

Clinical signs in Friederichs ataxia

Answer 2

Kyphoscoliosis
Pes cavus
Cerebellar ataxia -> Dysarthria, nystagmus
High steppage, broad based gait
Distal muscle muscle weakness
Areflexia + upgoing plantars
Loss of joint and vibration sense

Question 3

Associated conditions of Friederichs ataxia

Answer 3

HOCM
Sensorineural deafness
Optic atrophy
Diabetes

Question 4

Management of Friederichs ataxia

Answer 4

MDT approach:
regular neurology reviews
PT - exercises to maintain function
OT - Orthoses, adaptations
Visual + hearing aids
ECHO + ECG -> Cardiomyopathy + conduction abnormalities