Hypomyelination with atrophy of basal ganglia and cerebellum in Pennsylvania

1 specialist · 1 treatment center for Hypomyelination with atrophy of basal ganglia and cerebellum in Pennsylvania, verified against ClinicalTrials.gov, PubMed, and the NPPES NPI registry.

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC), also known as TUBB4A-related leukodystrophy, is an extremely rare neurological disorder characterized by deficient formation of myelin (the protective covering of nerve fibers) in the brain, combined with progressive shrinkage (atrophy) of the basal …