Hypomyelination with atrophy of basal ganglia and cerebellum
Type of disease: Rare conditions
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems. These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better. Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement – the basal ganglia and cerebellum. H-ABC is is caused by a mutation in the TUBB4A gene Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.