Neutral lipid storage disease with myopathy

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Disease 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.[7385] There is currently no treatment to correct the underlying metabolic problem.[7386]


Synonyms

  • NLSDM
  • Neutral lipid storage disease without ichthyosis

For more information, visit GARD.

National Organization for Rare Disorders