Orphanet: Neutral lipid storage myopathy
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Neutral lipid storage myopathy

Disease definition

A form of neutral lipid storage disease characterized by adult onset of slowly progressive, typically proximal, muscular weakness of the upper and lower limbs, associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional, variable manifestations include hepatomegaly, diabetes mellitus, and hypertriglyceridemia, among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans' anomaly), as well as massive accumulation of lipid droplets in muscle tissue.

ORPHA:98908

Classification level: Disorder
  • Synonym(s):
    • NLSDM
    • Neutral lipid storage disease with myopathy without ichthyosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E75.5
  • OMIM: 610717
  • UMLS: C1853136
  • MeSH: -
  • GARD: 10288
  • MedDRA: -
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