Spectrin-associated autosomal recessive cerebellar ataxia

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Synonyms: Autosomal recessive spinocerebellar ataxia type 14 | Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome | SCAR14 | SPARCA | SPARCA1 | Spectrin-associated autosomal recessive cerebellar ataxia type 1

Spectrin-associated autosomal recessive cerebellar ataxia is a rare genetic neurological disease due to SPTBN2 mutations characterized by global development delay in infancy followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia mild to severe intellectual disability development of cerebellar atrophy and abnormal eye movements (including a convergent squint hypometric saccades jerky pursuit movements and incomplete range of movement).

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 July 2024

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Advocacy Organizations

Ducks For Dementia

Ducks For Dementia, founded on the profound compassion and vision of a young boy named David, aims to bring solace and understanding to individuals with dementia and their families. Our mission is rooted in the distribution of toy ducks as symbols of comfort, which serve not only as therapeutic aids but also as beacons of joy and companionship for those navigating the complexities of dementia.

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.

National Ataxia Foundation

Ataxia is a rare neurological disease affecting tens of thousands of people in the US and many thousands more around the world. It is progressive, affecting a person’s ability to walk, talk, and use fine motor skills. 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

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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