Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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.

Treatment

Newline Maker

How might neutral lipid storage disease with myopathy be treated?

To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may benefit from bezafibrate (a medication used to treat high cholesterol) treatment, particularly with respect to lipid accumulation and fat oxidative capacity.[1] Additional studies into this therapy are needed. 
Last updated: 5/8/2014

References
  1. van de Weijer et al. Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy. Circ Res. 2013 Mar 1; 112(5):e51-4. http://circres.ahajournals.org/content/112/5/e51.long. Accessed 5/8/2014.


Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Neutral lipid storage disease with myopathy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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.