Orphanet: Childhood onset autosomal recessive slowly progressive spinocerebellar ataxia

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Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Disease definition

A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive spinocerebellar ataxia type 7
    • SCAR7
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.1
  • OMIM: 609270
  • UMLS: C1836474
  • MeSH: -
  • GARD: 12232
  • MedDRA: -

Detailed information


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