Neutral lipid storage disease with myopathy (NLSDM)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Neutral lipid storage disease with myopathy (NLSDM). This is caused by mutations in the PNPLA2 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the PNPLA2 gene
- The gene encodes adipose triglyceride lipase (ATGL)
- The transmission is autosomal recessive
Pathological features
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Muscle features
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Cardiac features
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Hepatic features
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Endocrine features
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Other clinical features
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Blood tests
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Muscle biopsy: features
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Magnetic resonance imaging (MRI)
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Synonym
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References
- 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.
- 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.
- 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.
- 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.
- 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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