hypomyeliniserende leukodystrofie met atrofie van basale ganglia en cerebellum (aandoening)
hypomyeliniserende leukodystrofie met atrofie van basale ganglia en cerebellum
H-ABC
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
Hypomyelination with atrophy of basal ganglia and cerebellum syndrome H-ABC - hypomyelination, atrophy of basal ganglia and cerebellum
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
