Hypomyelination with atrophy of basal ganglia and cerebellum
Description
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. Patients present with distinctive MRI findings of diffuse hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy, and atrophy of the basal nuclei.
Cell Lines
Link
For more information, please consult the corresponding entry in Orphanet* .
*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.