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
andmuscle 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.