Friedreich ataxia (Q41031): Difference between revisions

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Latest revision as of 07:04, 13 August 2026

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.