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Genetic and Rare Diseases Information Center (GARD)

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Neutral lipid storage disease with myopathy


Other Names for this Disease

  • Neutral lipid storage disease without ichthyosis
  • NLSDM
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

Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern.[1] There is currently no treatment to correct the underlying metabolic problem.[2]
Last updated: 5/8/2014

References

  1. Neutral lipid storage disease with myopathy. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy. Accessed 5/8/2014.
  2. Fischer J, Negre-Salvayre A, Salvayre R. Neutral lipid storage disease. Orphanet. March 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=165. Accessed 5/8/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Neutral lipid storage disease with myopathy. This website is maintained by the National Library of Medicine.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • 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

  • 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.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neutral lipid storage disease with myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Neutral lipid storage disease without ichthyosis
  • NLSDM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.