Neutral Lipid Storage Disease with Myopathy

Alternative Names

  • NLSDM
  • Neutral Lipid Storage Disease without Ichthyosis
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

610717

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11p15.5

Description

NLSDM is a slowly progressing metabolic disorder with an onset in adulthood. The condition results in proximal muscle weakness, easy fatigability and elevated levels of serum creatine kinase. Affected individuals may also develop cardiomyopathy, hyopthyroidism or type 2 diabetes. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610717.1.1LebanonMaleYes Myopathy; Vacuolated lymphocytesNM_020376.4:c.662G>CHomozygousAutosomal, RecessiveTavian et al, 2012
610717.1.2LebanonFemaleYes Myopathy; Vacuolated lymphocytes; Chro...NM_020376.4:c.662G>CHomozygousAutosomal, RecessiveTavian et al, 2012 Sister of 610717.1.1
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