Autosomal recessive cerebelloparenchymal disorder type 3

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Autosomal recessive cerebelloparenchymal disorder type 3

Synonyms: Autosomal recessive spinocerebellar ataxia type 2 | SCAR2

A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia dysarthria dysmetria dysdiadochokinesis tremor and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity hypotonia cataracts and sensorineural hearing loss among others. Brain imaging shows cerebellar 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 Data version April 2024

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Autosomal recessive cerebelloparenchymal disorder type 3?

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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.

Clinical Trials

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