Résumé :
|
Limb girdle muscular dystrophies (LGMD) represent a group of muscle diseases characterized by genetic and clinical heterogeneity. At the moment, seven autosomal dominant and 12 autosomal recessive loci have been identified. We characterized the frequency of limb-girdle muscular dystrophy (LGMD) subtypes in a cohort of 82 subjects with increased creatin-kinase (CK) blood levels and skeletal muscle weakness who came to our attention in the last two years. Aims of this study were to evaluate the relative proportion of patients with hyperCKemia with a diagnosis of LGMD, consider the percentage of the different types of LGMD, to describe the clinical pattern of the different forms, as prognostic factors in north-west Tuscany population. Patients underwent a clinical examination, electrophysiological tests, muscle biopsy and molecular analysis. A diagnosis of LGMD was confirmed in 44 patients. Among these, LGMD relative frequency was: dysferlinopathies (LGMD2B) 6.8%, 31.8% Calpainopathies (LGMD2A), 6.8% alpha-sarcoglycan (LGMD2D), 2.3% beta-sarcoglycan (LGMD2E), 2.3% Fukutin-related protein (LGMD2I), undetermined 50%. Clinical disease severity was higher in patients with sarcoglycanopathy, followed by calpainopathy, than dysferlinopathies, than Fukutin-related protein deficiency. The age at the disease onset was 6 years for sarcoglycanopathy, 14 years for calpainopathies and 17 years for dysferlinopathies, 40 years for Fukutin-related protein deficiency.
|