Leukoencephalopathy with vanishing white matter
Other Names for this Disease
- Childhood ataxia with diffuse central nervous system hypomyelination
- CACH syndrome
- CACH/VWM syndrome
- Myelinosis centralis diffusa
- Cree leukoencehalopathy
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central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symptoms during childhood, but symptoms may first become apparent anywhere from before birth to adulthood. Symptoms may include difficulty coordinating movements (ataxia); muscle stiffness (spasticity); and optic atrophy. Symptoms may worsen rapidly with episodes of fever, after head trauma, or with other stresses on the body. This disorder may be caused by mutations in any of 5 genes and is inherited in an autosomal recessive manner. There is no specific treatment, and prognosis seems to correlate with the age of onset, the earliest forms being more severe.Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the
Last updated: 9/14/2015
- Leukoencephalopathy with vanishing white matter. Genetics Home Reference. May, 2013; http://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-vanishing-white-matter.
- Raphael Schiffmann, Anne Fogli, Marjo S van der Knaap, and Odile Boespflug-Tanguy. Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter. GeneReviews. August 9, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1258/.
- Odile Boespflug-Tanguy, Anne Fogli, Pierre Labauge, Florence Niel Buetschi, and Diana Rodriguez. CACH syndrome. Orphanet. September, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135.
- Genetics Home Reference (GHR) contains information on Leukoencephalopathy with vanishing white matter. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Leukoencephalopathy with vanishing white matter. Click on the link to view a sample search on this topic.