Spinocerebellar ataxia-dysmorphism syndrome

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Spinocerebellar ataxia-dysmorphism syndrome

A rare hereditary ataxia characterized by unusual facies (i. e. gross rough and abundant hair mild palpebral ptosis thick lips and down-curved corners of the mouth) dysarthria delayed psychomotor development scoliosis foot deformities and ataxia. There have been no further descriptions in the literature since 1985.

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 February 2024

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Spinocerebellar ataxia-dysmorphism syndrome?

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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.