Friedrich ataxia - Sanjay Manohar's Medical Browser
Friedrich ataxia
external
Synonyms
Spinocerebellar ataxia 6
SCA6
SCA-6
Causes
Chromosome 9 mutation
FXN gene mutation
Effects
Cerebellar ataxia
Bulbar palsy
Cerebellar lesion
Dorsal column lesion
Congenital peripheral neuropathy
Mixed motor weakness
Pes cavus
High arched palate
Kyphosis
Scoliosis
Optic atrophy
Retinitis pigmentosa
Diabetes mellitus
Sensorineural deafness
Hypercatabolic state
Parents
Triplet repeat disease
Autosomal recessive disorder
Description
"GAA*TCC repeat in X25 frataxin gene"
Type item name:
Sanjay Manohar
2006