Catalog
Autosomal recessive ataxia
No MMS code
Link to WHO Definition
Autosomal recessive ataxia – http://id.who.int/icd/entity/103932378
Group of autosomal recessively inherited cerebellar ataxias that involve dysfunction of both the cerebellum and dorsal columns. The age of onset is usually less than 20 years of age. The most common forms are Friedreich ataxia, Ataxia-Telangiectasia, and early onset cerebellar ataxia with retained tendon reflexes.
Parents
Children
- Friedreich-like ataxia with selective vitamin E deficiency
- Ataxia due to Marinesco-Sjögren syndrome
- 8A03.13 Ataxia due to abetalipoproteinemia
- 8A03.12 Ataxia due to Refsum disease
- Ataxia-telangiectasia
- Autosomal recessive ataxia with oculomotor apraxia type 1
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- 8A03.11 Ataxia due to Cerebrotendinous xanthomatosis
- Other autosomal recessive ataxia
- Autosomal recessive ataxia with oculomotor apraxia type 2
- Autosomal recessive ataxias due to POLG mutations
- 8A03.10 Friedreich ataxia