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Diseases

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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Treatment


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How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated?

Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC).  However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa.[1]  Another patient showed improvement in movement symptoms after taking folinic acid supplements.[2]
Last updated: 3/28/2012

References
  1. 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.
  2. Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S. Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome. Tohoku Journal of Experimental Medicine. 2007; 211:95-96. http://www.ncbi.nlm.nih.gov/pubmed/17202777. Accessed 3/28/2012.


Clinical Trials & Research for this Disease

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.