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Lipid Myopathies

Overview
Journal J Clin Med
Specialty General Medicine
Date 2018 Nov 28
PMID 30477112
Citations 19
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Abstract

Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Disease onset can occur in all ages, from early stages of life to late-adult onset, showing with a wide spectrum of clinical symptoms. Muscular involvement can be fluctuant or stable and can manifest as fatigue, exercise intolerance and muscular weakness. Muscular atrophy is rarely present. Acute muscular exacerbations, resulting in rhabdomyolysis crisis are triggered by several factors. Several classifications of lipid myopathies have been proposed, based on clinical involvement, biochemical defect or histopathological findings. Herein, we propose a full revision of all the main clinical entities of lipid metabolism disorders with a muscle involvement, also including some those disorders of fatty acid oxidation (FAO) with muscular symptoms not included among previous lipid myopathies classifications.

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References
1.
Toscano A, Barca E, Musumeci O . Update on diagnostics of metabolic myopathies. Curr Opin Neurol. 2017; 30(5):553-562. DOI: 10.1097/WCO.0000000000000483. View

2.
Wanders R, Vreken P, den Boer M, Wijburg F, van Gennip A, IJlst L . Disorders of mitochondrial fatty acyl-CoA beta-oxidation. J Inherit Metab Dis. 1999; 22(4):442-87. DOI: 10.1023/a:1005504223140. View

3.
Orngreen M, Madsen K, Preisler N, Andersen G, Vissing J, Laforet P . Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial. Neurology. 2014; 82(7):607-13. PMC: 3963421. DOI: 10.1212/WNL.0000000000000118. View

4.
Fernandez-Sola J, Preedy V, Lang C, Gonzalez-Reimers E, Arno M, Lin J . Molecular and cellular events in alcohol-induced muscle disease. Alcohol Clin Exp Res. 2007; 31(12):1953-62. DOI: 10.1111/j.1530-0277.2007.00530.x. View

5.
Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R . Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001; 69(5):1002-12. PMC: 1274347. DOI: 10.1086/324121. View