Orphanet: X linked progressive cerebellar ataxia
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X-linked progressive cerebellar ataxia

Disease definition

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.

ORPHA:1175

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: G11.1
  • OMIM: 302500  302800
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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