Synonyms: Ketoaciduria-intellectual disability-ataxia-deafness syndrome | Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia sensorineural hearing loss and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting nystagmus intellectual disability or dementia) and ketoaciduria.
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 2026
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Richards-Rundle syndrome?
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Advocacy Organizations
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
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.