Neutral lipid storage disease with myopathy (NLSDM)

Evidence-based neurology checklist on neutral lipid storage disease with myopathy (nlsdm): Genetics This is caused by mutations in the PNPLA2 gene The gene encodes adipose triglyceride lipase (ATGL) The transmission is autosomal recessive Pathological features Muscle features Cardiac features…

Genetics

  • This is caused by mutations in the PNPLA2 gene
  • The gene encodes adipose triglyceride lipase (ATGL)
  • The transmission is autosomal recessive

Pathological features

Muscle features

Cardiac features

Hepatic features

Endocrine features

Other clinical features

Blood tests

Muscle biopsy: features

Magnetic resonance imaging (MRI)

Synonym

References

  1. Missaglia S, Maggi L, Mora M, et al. Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement. Neuromuscul Disord 2017; 27:481-486.
  2. Latimer CS, Schleit J, Reynolds A, et al. Neutral lipid storage disease with myopathy: further phenotypic characterization of a rare PNPLA2 variant. Neuromuscul Disord 2018; 28:606-609.
  3. Tan J, Yang H, Fan J, Fan Y, Xiao F. Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China. Clin Neurol Neurosurg 2018; 168:102-107.
  4. Pennisi EM, Arca M, Bertini E, et al; Italian NLSD Group. Neutral lipid storage diseases: clinical/genetic features and natural history in a large cohort of Italian patients. Orphanet J Rare Dis 2017; 12:90.
  5. Massa R, Pozzessere S, Rastelli E, et al. Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation. Muscle Nerve 2016; 53:644-648.
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