X-linked spinocerebellar ataxia type 3

A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.

Also known as: SCAX3, X-linked ataxia-deafness syndrome, spinocerebellar ataxia, X-linked type 3, Scax3, ataxia-deafness syndrome X-linked, ataxia-deafness syndrome, X-linked, spinocerebellar ataxia X-linked type 3, spinocerebellar ataxia, X-linked 3

18 clinical trials for this condition and its sub-types, 0 tagged with X-linked spinocerebellar ataxia type 3 itself.