Hypomyelination with atrophy of basal ganglia and cerebellum

Disease Overview

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 worsen over time. Severity of symptoms and rate of progression can vary.[13413] Symptoms may include delayed motor development, learning difficulties, upper-motor neuron dysfunction (spasticity, exaggerated reflexes, and Babinski signs), dystonia, rigidity, involuntary movements, and speech and swallowing problems.[13413]

H-ABC is caused by a mutation in the TUBB4A gene. Inheritance is autosomal dominant, but most cases are due to a new mutation occurring for the first time in a person with the condition.[13413][7874]

Treatment may involve taking medications to ease symptoms, physical therapy, and surgery when dystonia does not improve with medication.[13413]

Synonyms

• H-ABC
• Leukodystrophy, hypomyelinating, 6
• HLD6
• Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum
• HABC