Catalog
Friedreich ataxia
Link to WHO Definition
Friedreich ataxia – http://id.who.int/icd/entity/980686666
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.