LIMB-GIRDLE MUSCULAR-DYSTROPHY - A FOLLOW-UP-STUDY OF 79 PATIENTS

The limb-girdle muscular dystrophies (LGMD) are autosomally inherited neuromuscular diseases. Recently six different loci for LGMD have been reported: 5q (LGMD1A), 15q (LGMD2A), 2p (LGMD2B), 13q (LGMD2C), 17q ( LGMD2D) and 4p-14-q21.2 (LGMD2E) respectively. We have studied 79 pati ents affected by LGMD during the period 1976 to 1995. All patients wer e examined clinically, and various investigations, including genetics were performed. According to their data we divided them as follow: 1) Cases with autosomal recessive inheritance (34.19%) of these two famil ies are linked to chromosome 2p and the others were subdivided accordi ng to the age at onset into childhood LGMD and juvenile-adult LGMD; 2) Cases with dominant inheritance (13.92%); 3) Sporadic cases (51.89%). Onset of symptoms occurs from the first to the third decade. The clin ical course varies considerably, as does the degree of disability. Our study allowed to identify two different groups of patients who relati vely homogeneous with respect to their clinical and laboratory charact eristics.