Hypomyelination with atrophy of basal ganglia or cerebellum (Q98022): Difference between revisions

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Latest revision as of 14:17, 16 August 2026

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterised by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria, and distinctive MRI findings of diffuse but partial hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy and atrophy of the basal ganglia.

Language	Label	Description	Also known as
default for all languages	ID_267638596
English	Hypomyelination with atrophy of basal ganglia or cerebellum	Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterised by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria, and distinctive MRI findings of diffuse but partial hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy and atrophy of the basal ganglia.