Limb-girdle muscular dystrophy, type 2B
Other Names for this Disease
- Muscular dystrophy, limb-girdle, type 3
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limb-girdle muscular dystrophy, a group of disorders that affect the voluntary muscles of the hips and shoulders. LGMD2B is characterized by early weakness and wasting (atrophy) of the pelvic and shoulder girdle muscles in adolescence or young adulthood. The age of onset typically ranges from 15 to 35 years, and legs are usually affected first. Symptoms include the inability to tiptoe and difficulty walking and running. Cardiac (heart) and respiratory involvement is uncommon. It is usually slowly progressive, with need of a wheelchair 10 to 20 years after onset. LGMD2B is caused by mutations in the DYSF gene and is inherited in an autosomal recessive manner. There is no specific treatment. Management is tailored to each person and may include physical therapy and stretching exercises; use of aids for mobility; and surgery as needed for orthopedic complications.Limb-girdle muscular dystrophy, type 2B (LGMD2B) is one of many forms of
Last updated: 3/21/2016
- Masashi Aoki. Dysferlinopathy. GeneReviews. March 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1303/.
- Basil T Darras. Limb-girdle muscular dystrophy. UpToDate. Waltham, MA: UpToDate; February, 2016;
- Elena Pegoraro and Eric P Hoffman. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1408/.
- Autosomal recessive limb-girdle muscular dystrophy type 2B. Orphanet. January, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268.
- Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy, type 2B. This website is maintained by the National Library of Medicine.
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- Muscular Dystrophy Association has information and resources about Limb-girdle muscular dystrophy, type 2B. Please click on the link to access this resource.
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- 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 Limb-girdle muscular dystrophy, type 2B. Click on the link to view a sample search on this topic.