DOI: 10.36347/sjmcr.2020.v08i11.010

Pages: 968-970

Limb-Girdle Muscular Dystrophy (LGMD) is a group of skeletal muscle disorder characterized by muscle weakness in the upper and lower limbs, elevated creatine phosphokinase and decreased muscular activity. The disorder occurs due to the genetic variability among the genes involved in synthesis of muscle protiens. The most commonly affected muscular protein is dystrophin encoded by the dystrophin gene located in the human X chromosome. LGMD subgrouped as sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy based on the protein and genetic involvement. In the present case report a 34 years old male admitted with complaints of lower limb weakness with elevated creatine phosphokinase (CPK) and found to be 2647.7 U/L (24-195 U/L). Also, serum lactate dehydrogenase was found to be 304 U/L. Also he was treated for the complication of grade I fatty liver. In the present case, regular monitoring and symptomatic management required to prevent or reduce the risk of other signs and symptoms.