General description

TMEM63A related hypomyelinating leukodystrophy, also known as hypomyelinating leukodystrophy 19 (HLD19), is a rare genetic disorder characterized by reduced myelin in the central nervous system's white matter tracts. It is caused by mutations in the TMEM63A gene, which encodes a mechanosensitive ion channel, though its role in myelination remains unexplored.

Patients with this disorder typically exhibit congenital nystagmus and developmental delay in infancy. However, nystagmus disappears between early childhood and school age, and other neurological symptoms tend to improve over time. In some cases, mild neurological issues such as ataxia and speech articulation difficulties may persist.