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Diseases

Genetic and Rare Diseases Information Center (GARD)

Limb-girdle muscular dystrophy type 2A


Other Names for this Disease
  • LGMD2A
  • Calpainopathy
  • Limb-girdle muscular dystrophy type 2
  • LGMD2
  • Muscular dystrophy, pelvofemoral
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Overview

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability.[1][2] The condition is caused by mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases.[3] Treatment is aimed at maintaining mobility and preventing complications.[2]

There are three subtypes of LGMD2A which differ by the distribution of muscle weakness and age at onset:[2]

  • Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. In these cases, muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle. Onset is usually before age 12 or after age 30; 
  • Scapulohumeral LGMD (also known as Erb LGMD) usually has milder symptoms with infrequent early onset. In most cases, muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; 
  • HyperCKemia is usually observed in children or young individuals. In most cases, those affected don't have symptoms, just high levels of creatine kinase in their blood.
 
Last updated: 12/17/2015

References

  1. Autosomal recessive limb-girdle muscular dystrophy type 2A. Orphanet. January 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=267. Accessed 12/17/2015.
  2. Angelini C, Fanin M. Calpainopathy. GeneReviews. November 26, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1313/. Accessed 12/17/2015.
  3. Limb-girdle muscular dystrophy. Genetics Home Reference (GHR). April 2011; http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy. Accessed 12/17/2015.
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 2A. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • LGMD2A
  • Calpainopathy
  • Limb-girdle muscular dystrophy type 2
  • LGMD2
  • Muscular dystrophy, pelvofemoral
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.