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

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.