팔다리이음 근육디스트로피의 진단 및 치료

Abstract

The limb girdle muscular dystrophy (LGMD) is an inherited myopathy with characteristic feature of muscular weakness predominantly affecting shoulder and pelvic girdles. Since the 1990s its classification has been completely revised because of the progress of molecular diagnosis and protein analysis. To diagnose a particular subtype of LGMD may be difficult and requires a comprehensive appraoch due to wide clinical and genetic heterogeneity. To reach a precise diagnose, the following steps generally are needed. The first step is to analyse the clinical presentation and serum creatine kinase level. The second step is a protein analysis such as immunohistochemistry and Western blotting in the muscle biopsy. The third step is a mutational analysis of defective protein to confirm the final diagnosis. However, advances in molecular technologies make mutational analysis the golden standard of LGMD diagnosis. Current treatment of LGMD remains palliative and supportive. However, the uderstanding of novel pathogenic mechanisms wll suggest therpeutic approaches and future clinical trials. This articel summarizes current diagnostic and therapeutic approcahes of LGMD.