Hypomyelination with atrophy of basal ganglia and cerebellum

Common Name(s)

Hypomyelination with atrophy of basal ganglia and cerebellum

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
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypomyelination with atrophy of basal ganglia and cerebellum" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hypomyelination with atrophy of basal ganglia and cerebellum" returned 0 free, full-text research articles on human participants.

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The terms "Hypomyelination with atrophy of basal ganglia and cerebellum" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.