Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC)

What is Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC)?

Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC) is a type of Leukodystrophy 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.

The leukodystrophies make up a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath, which insulates nerve cells.

Click here to learn more about leukodystrophies.

What are the symptoms of Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC)?

Symptoms may include:

Delayed motor development
Learning difficulties
Upper-motor neuron dysfunction (spasticity, exaggerated reflexes, and Babinski signs)
Dystonia
Rigidity
Involuntary movements
Speech and swallowing problems.

What causes Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC)?

H-ABC is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.

How is Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC) diagnosed?

H-ABC is diagnosed based on the presence of characteristic symptoms, a magnetic resonance imaging (MRI) scan of the brain, and genetic testing confirming a mutation in the TUBB4A gene.

What are the treatments for Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC)?

Unfortunately, there is currently no cure for H-ABC.

However, quality of life may be improved with management of individual symptoms of the condition

Where can I find out more about Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC)?