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 patients affected by LGMD during the period 1976 to 1995. All patients were 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 families are linked to chromosome 2p and the others were subdivided according 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 clinical course varies considerably, as does the degree of disability. Our study allowed to identify two different groups of patients who relatively homogeneous with respect to their clinical and laboratory characteristics.
Mahjneh
I
I
Department of Neurological Science, University of Florence, Italy.
Bushby
K
K
Pizzi
A
A
Bashir
R
R
Marconi
G
G
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D002894:Chromosomes, Human, Pair 4; D002895:Chromosomes, Human, Pair 5; D003241:Consanguinity; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D014057:Tomography, X-Ray Computed