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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Spinocerebellar ataxia type 3?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Cure Rare Disease
Developing a novel drug development framework to allow for the creation of treatments for rare and ultra-rare genetic neuromuscular conditions.
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.
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.
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Ataxia and me
To relieve the needs of sufferers of Ataxia or other neurological disorders, their families and carers for the public benefit by providing patient led support and by raising awareness of such conditions."
National Ataxia Foundation
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 while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
For a list of clinical trials in this disease area, please click here.