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Diseases

Genetic and Rare Diseases Information Center (GARD)

Limb-girdle muscular dystrophy, type 2B


Other Names for this Disease
  • LGMD2B
  • Muscular dystrophy, limb-girdle, type 3
  • LGMD3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Limb-girdle muscular dystrophy, type 2B (LGMD2B) is one of many forms of 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.[1] The age of onset typically ranges from 15 to 35 years, and legs are usually affected first.[2] Symptoms include the inability to tiptoe and difficulty walking and running.[3] Cardiac (heart) and respiratory involvement is uncommon.[2] It is usually slowly progressive, with need of a wheelchair 10 to 20 years after onset.[2] LGMD2B is caused by mutations in the DYSF gene and is inherited in an autosomal recessive manner.[4][1] 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.[1]
Last updated: 3/21/2016

References

  1. Masashi Aoki. Dysferlinopathy. GeneReviews. March 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1303/.
  2. Basil T Darras. Limb-girdle muscular dystrophy. UpToDate. Waltham, MA: UpToDate; February, 2016;
  3. Elena Pegoraro and Eric P Hoffman. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1408/.
  4. 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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy, type 2B. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Muscular Dystrophy Association has information and resources about Limb-girdle muscular dystrophy, type 2B. Please click on the link to access this resource.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
Other Names for this Disease
  • LGMD2B
  • Muscular dystrophy, limb-girdle, type 3
  • LGMD3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.