Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

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Synonyms: Autosomal recessive spinocerebellar ataxia type 7 | SCAR7

A rare genetic autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood manifesting with gait and limb ataxia postural tremor dysarthria sensory alterations (e.g. decreased vibration sense) eye movement anomalies (i.e. nystagmus saccadic pursuit oculomotor apraxia) upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar pontine vermian and medullar 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://www.orphadata.org. Data version July 2024

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Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia?

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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.

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

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Clinical Trials

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