Friedreich ataxia (Q41031)
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Friedreich ataxia is an autosomal recessive ataxia characterised by difficulties to coordinate movements, associated with neurological signs (dysarthria, loss of reflexes, decrease of deep sensation, pes cavus and scoliosis), cardiomyopathy and sometimes diabetes mellitus. It is due to a mutation in the frataxin gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A03.10 |
||
| English | Friedreich ataxia |
Friedreich ataxia is an autosomal recessive ataxia characterised by difficulties to coordinate movements, associated with neurological signs (dysarthria, loss of reflexes, decrease of deep sensation, pes cavus and scoliosis), cardiomyopathy and sometimes diabetes mellitus. It is due to a mutation in the frataxin gene. |
