Friederichs ataxia Flashcards
1
Q
Definition of Friederichs ataxia
A
Autosomal recessive condition
Trinucleotide repeat -> Frataxin deficiency
2
Q
Clinical signs in Friederichs ataxia
A
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
3
Q
Associated conditions of Friederichs ataxia
A
HOCM
Sensorineural deafness
Optic atrophy
Diabetes
4
Q
Management of Friederichs ataxia
A
MDT approach:
regular neurology reviews
PT - exercises to maintain function
OT - Orthoses, adaptations
Visual + hearing aids
ECHO + ECG -> Cardiomyopathy + conduction abnormalities
