X-linked progressive cerebellar ataxia

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X-linked progressive cerebellar ataxia

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 May 2024

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X-linked progressive cerebellar ataxia?

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