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autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

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 dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.

Synonyms

  • DNAJB6 autosomal dominant limb-girdle muscular dystrophy
  • LGMD1D
  • LGMD1D (DNAJB6)
  • LGMD1E
  • LGMD1E (Bushby and Beckmann, 2003)
  • autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6
  • autosomal dominant limb-girdle muscular dystrophy type 1D
  • autosomal dominant limb-girdle muscular dystrophy type 1E
  • limb-girdle muscular dystrophy type 1D
  • muscular dystrophy limb-girdle type 1D
  • muscular dystrophy limb-girdle type 1E
  • muscular dystrophy, limb-girdle, autosomal dominant 1
  • muscular dystrophy, limb-girdle, type 1D
  • muscular dystrophy, limb-girdle, type 1D, formerly
  • muscular dystrophy, limb-girdle, type 1E
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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