Hypomyelination with atrophy of basal ganglia or cerebellum (Q98022): Difference between revisions
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Revision as of 14:16, 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 |
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| default for all languages | ID_267638596 |
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| 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. |
