Spinocerebellar ataxia type 42

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Spinocerebellar ataxia type 42

Synonyms: SCA42

A rare autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability dysarthria nystagmus saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity hyperreflexia decreased distal vibration sense urinary urgency or incontinence and postural tremor.

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 April 2024

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Spinocerebellar ataxia type 42?

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Advocacy Organizations

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

For a list of clinical trials in this disease area, please click here.