Lethal olivopontocerebellar atrophy
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
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