Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

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Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Synonyms: Autosomal recessive spinocerebellar ataxia type 6 | SCAR6

A rare genetic autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia with onset in infancy manifesting with delayed motor and speech development gait ataxia dysmetria hypotonia increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze mild spasticity intention tremor short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.

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: // Data version September 2023.

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Infantile-onset autosomal recessive nonprogressive cerebellar ataxia?

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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

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

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