Spinocerebellar ataxia type 32

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Synonyms: Cerebellar ataxia with azoospermia and intellectual disability | SCA32

An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.

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 February 2026

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Spinocerebellar ataxia type 32?

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Advocacy Organizations

Childhood Dementia Initiative

Our vision is for sustainable global health solutions for childhood dementia. This will be achieved through the following outcomes: - Treatments and cures available for children with dementia - Access to equitable and quality care for children with dementia and their families - Childhood dementia is a global health policy priority.

DDX3X Foundation

Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.

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.

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.

TNPO2 Foundation

Develop personalized therapeutics for ultra rare genetic neurodevelopmental diseases, especially those arising from mutations in the TNPO2 gene.

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Clinical Trials

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