Hypomyelinating leukodystrophy 6
Hypomyelinating leukodystrophy 6
Definition
A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
Also known as H-ABC, HABC, HLD6, hypomyelinating leukodystrophy type 6, hypomyelination with atrophy of basal ganglia and cerebellum, leukodystrophy, hypomyelinating, type 6 — per MONDO