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autosomal recessive limb-girdle muscular dystrophy type 2E

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

Synonyms

  • LGMD due to beta-sarcoglycan deficiency
  • LGMD type 2E
  • LGMD2E
  • LGMDR4
  • SGCB autosomal recessive limb-girdle muscular dystrophy
  • autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB
  • autosomal recessive limb-girdle muscular dystrophy type 2E
  • beta-sarcoglycan limb-girdle muscular dystrophy
  • beta-sarcoglycan-related LGMD R4
  • beta-sarcoglycan-related limb-girdle muscular dystrophy R4
  • beta-sarcoglycanopathy
  • limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
  • limb-girdle muscular dystrophy type 2E
  • muscular dystrophy limb-girdle with beta-sarcoglycan deficiency
  • muscular dystrophy, limb-girdle, autosomal recessive 4
  • muscular dystrophy, limb-girdle, type 2E
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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