Limb-Girdle Muscular Dystrophy / 대한신경근육질환학회지

ABSTRACT

The limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically determined disorders characterized by progressive weakness and atrophy predominantly impacting the shoulder and pelvic girdles. Their classification has been revised in recent years because of advances in understanding the molecular basis of the various subtypes of LGMD. The similarities of clinical features and muscle pathology between the diverse subtypes may cause confusion and difficulty relative to differential diagnosis by clinicians. The recognition of the characteristics of each of the subtypes and approaches to precise diagnosis based on available biochemical and molecular testing will allow directed management for each patient by predicting specific complications such as cardiac or respiratory systems, and in the future will be a beginning for specific gene and protein based therapies. Through the extensive review of literature, recent developments of LGMD regarding diagnosis and treatment are summarized.