The Advances Of Research In Lipid Storage Myopathy

Lipid storage myopathy(LSM) is a genetical metabolic myopathy, with the muscle weakness syndrome and the lipid accumulated in the muscle fibers, which due to the enzymes disorders. LSM is a group of lipid disorders with genetical heterogeneity, including 10 types at least, according to the genetic loci and the protein disorders. These disorders impair energy production and almost invariably involve skeletal muscle, causing progressive myopathy with muscle weakness, or recurrent acute episodes of rhabdomyolysis triggered by exercise, fasting, or infections. The diagnosis of LSM should be considered when typical pathological lipid droplet vacuolization presents in the muscle fibers. Urine organic acids, dry filter paper blood spot and serum free fatty acid acyl-carnitine analysis can help diagnosis. Detecting the explicit subtype, enzyme activity or gene analysis should be taken. No effective gene therapy is expected to be available in short time. Until a definitive cure is found, the treatment usually aims to relieve the symptoms.