Ataxia-tapetoretinal degeneration syndrome
A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration advancing choroidal sclerosis punctata albescens and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.
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.
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Ataxia-tapetoretinal degeneration syndrome?
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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.
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.
For a list of clinical trials in this disease area, please click here.