cerebellar hypoplasia

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These are a heterogeneous group of ataxias caused by:

  • malformation and hypoplasias of the cerebellum:
    • usually autosomal dominant inheritance
    • onset during childhood
    • characterised by hypotonia and cerebellar ataxia
    • IQ is normal
    • good prognosis, some improve with age

  • multiple system atrophy:
    • usually autosomal recessive
    • prognosis is poor with early onset disease
    • characterised by:
      • spasticity
      • failure to thrive
      • amyotrophy
      • skeletal malformations
    • babies die within a few weeks of birth

Last reviewed 01/2018