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Genetic and Rare Diseases Information Center (GARD)

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Hypomyelination with atrophy of basal ganglia and cerebellum


Other Names for this Disease

  • H-ABC
  • HABC
  • HLD6
  • Leukodystrophy, hypomyelinating, 6
  • Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum
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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 vary in severity; they include movement difficulties and delay in mental development or learning problems.[1]  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.  The cause of H-ABC is currently unknown.[2]
Last updated: 3/28/2012

References

  1. Schiffmann R, van der Knaap MS. The latest on leukodystrophies. Current opinion in neurology. 2004; 17:187-192. http://www.ncbi.nlm.nih.gov/pubmed/15021247. Accessed 3/27/2012.
  2. Wakusawa K, Haginoya K, Kitamura T, Togashi N, Ishitobi M, Yokoyama H, Higano S, Onuma A, Nara T, Iinuma K. Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. Tohoku Journal of Experimental Medicine. 2006; 209:163-167. http://www.ncbi.nlm.nih.gov/pubmed/16707859. Accessed 3/28/2012.
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  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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Other Names for this Disease
  • H-ABC
  • HABC
  • HLD6
  • Leukodystrophy, hypomyelinating, 6
  • Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.