Spinocerebellar ataxia type 3

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Spinocerebellar ataxia type 3

Synonyms: Azorean disease of the nervous system | MJD | Machado disease | Machado-Joseph disease | Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia | SCA3

Spinocerebellar ataxia type 3 (SCA3) also known as Machado-Joseph disease is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term) a neurodegenerative disorder and is characterized by ataxia external progressive ophthalmoplegia and other neurological manifestations.

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 May 2024

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Spinocerebellar ataxia type 3?

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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.

HD Reach

HD Reach is working to improve the care and quality of life of those affected by Huntington’s disease. Founded as a nonprofit in 2009, we provide connections to medical providers, referrals to local services, care management, family support, education, and anonymous genetic testing.

Clinical Trials

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