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Autosomal recessive spastic ataxia with leukoencephalopathy

ORPHA:314603· ICD-10 E88.8

Definition

A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Adolescent, Adult, Childhood