Preferred Label : Hypomyelination with atrophy of basal ganglia or cerebellum;
ICD-11 definition : Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized
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.;
Origin ID : 267638596;
Currated CISMeF NLP mapping
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized
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.
