FXN

Friedreich ataxia

Friedreich ataxia is characterized 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. In France prevalence is estimated to 1 in 50,000 and males and females are equally affected. Onset often occurs in childhood or adolescence, but also sometimes in adulthood. It is transmitted as an autosomal recessive trait. The causative gene is the FRDA gene and codes for frataxin. Diagnosis can be made by genetic testing.

Friedreich ataxia

Friedreich ataxia is characterized 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. In France prevalence is estimated to 1 in 50,000 and males and females are equally affected. Onset often occurs in childhood or adolescence, but also sometimes in adulthood. It is transmitted as an autosomal recessive trait. The causative gene is the FRDA gene and codes for frataxin. Diagnosis can be made by genetic testing.

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