A rare X-linked cerebellar ataxia characterized by a combination of upper and lower motor neuron signs with an age of onset in the first or second decade slow progression and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia intention tremor dysmetria dysdiadochokinesia dysarthria nystagmus and hyperreflexia. Further phenotypic features are pes cavus scoliosis muscle atrophy and peripheral sensory and motor nerve abnormalities.
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
Newly diagnosed with
X-linked progressive cerebellar ataxia?
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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.
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Clinical Trials
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