/hypomyelinating leukodystrophy 6

hypomyelinating leukodystrophy 6

Rare Disease

MONDO:0012905

Also Known As

H-ABCHABCHLD6hypomyelinating leukodystrophy type 6hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellumhypomyelination with atrophy of basal ganglia and cerebellumleukodystrophy, hypomyelinating, type 6leukodystrophy, hypomyelinating, 6leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum

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.