Study of the Clinical,Neuro-electrophysiological and Pathological Features of the Lipid Storage Myopathy

Objective To study the clinical, neuro electrophysiological and pathological features of lipid storage myopathy (LSM). Methods Using retrospective analysis, the clinical, muscle pathology and neuroelectrophysiological data from 8 eases of the LSM were studied. Results The onset of all patients was subacute or chronic. The patients showed muscle weakness proximally and were easy to be fatigued after activity. The level of creatase in serum increased, cracks or vacuoles of museular fibers were observed by HE staining. Oil red O staining reaction was enhanced which showed increase of lipid droplets within muscle fibers. Amphitypy muscle fibers were all involved in, especially type I muscle fibers. Electron microscopic observation demonstrated excessive accumulation of lipid droplets in muscle fibers. Myogenic damage was found by electromyogram (EMG) examination. Treatment with carnitine and glucocorticoid was very effective. Conclusions LSM is a lipid metabolic myopathy which manifests by muscle weakness and marked fatigue. Treatment with carnitine and glueocorticoid is very effective.