Clinical,Pathological And Molecular Biological Characteristics' Study Of Lipid Storage Myopathy

Objective: Summarizing the clinical,pathological and molecular biological characteristics of lipid storage myopathy in Hebei province.Methods: The clinical and muscle pathological data of 27 patients with abnormal deposition of lipid droplets in muscle fibers diagnosed by muscle pathology were collected and analyzed,and metabolic related genes were detected.Results:1.Genetic characteristics: In this group of 20 patients detected mutations associated with LSM,ETFDH gene mutation is the most common,while PNPLA2 gene mutation is rare..2.Clinical characteristics of LSM patients: All the patients had occult onset and chronic disease course.All ages could be attacked.The main manifestations are proximal extremities weakness and exercise intolerance,accompanied by weakness in the trunk muscles and multiple system involvement,such as heart,liver,kidney and digestive tract.Laboratory examination showed CK and AST increased.Electromyogram showed myogenic,which could be accompanied with neurogenic.Serum acylcarnitine and organic acid profile showed glutaric acidemia and increased in multiple acylcarnitines.3.Histopathological features: The pathological features of LSM were abnormal deposition of lipid droplets in muscle fibers,mainly involving type 1fibers,could be accompanied by mitochondrial dysfunction or oxidase unevenly distributed.Conclusions:1.The clinical manifestations of LSM are complex and diverse.All ages could be attacked.The main manifestations are proximal extremities weaknessand motor intolerance,accompanied by weakness in the trunk muscles and multiple system involvement.Serum CK increases in varying degrees.Electromyography is myogenic,may be accompanied by neurogenic.2.The pathological features of LSM were abnormal deposition of lipid droplets in muscle fibers,mainly involving type 1 fibers.3.In Hebei province,LSM patients are mainly MADD caused by ETFDH gene mutations.The most common mutations are c.770A>G and c.1227A>C.4.RR-MADD is the most common type and the therapeutic effect is dramatically good,so it is necessary to make accurate diagnosis of the patients who intend to be diagnosed as LSM.It is necessary to improve the understanding of LSM,improve the diagnostic level of LSM and guide the clinical treatment.