X-linked spinocerebellar ataxia type 3

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X-linked spinocerebellar ataxia type 3

Synonyms: SCAX3 | X-linked ataxia-deafness syndrome | X-linked ataxia-hearing loss syndrome

X-linked spinocerebellar ataxia type 3 is 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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X-linked spinocerebellar ataxia type 3?

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Advocacy Organizations

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Clinical Trials

For a list of clinical trials in this disease area, please click here.