Freidrich's Ataxia Flashcards
1
Q
What is the inheritance pattern of freidrich’s ataxia?
A
Autosomal recessive
2
Q
what type of disorder is Freidrich’s ataxia?
A
Trinucleotide repeat disorder characterised by a GAA repeat in the X25 gene on chromosome 9 (frataxin)
3
Q
What are the neurological features of Freidrich’s ataxia?
A
- absent ankle jerks/extensor plantars
- cerebellar ataxia
- optic atrophy
- spinocerebellar tract degeneration
- gait ataxia
4
Q
What are some of the non-neurological freatures of Freidrich’s ataxia?
A
HOCM
Diabetes Mellitus
High-arched palate
