Aspects Cliniques et Paracliniques des Myopathies des Ceintures Récessives au Service de Neurologie du CHU Point G

RESUME Introduction. Les myopathies des ceintures sont un groupe de maladies hereditaires se caracterisant par un deficit des muscles des ceintures et segments des membres. Ce sont des maladies rares qui ont ete peu etudiees en Afrique subsaharienne. C’est ainsi que nous avons entrepris cette etude avec comme but de decrire les signes cliniques et paracliniques des myopathies des ceintures recessives au Service de Neurologie du CHU Point G. Patients et methodes. Il s’agit d’une etude longitudinale, prospective ayant dure de Mars 2014 a Mai 2019, portant sur des patients atteints de myopathie des ceintures recessives et ayant donne leur consentement ecrit. Les variables analysees etaient socio-demographiques, cliniques et paracliniques. Resultats. Nous avons enrole 46 familles (67 patients), soit une frequence de 16,7% parmi les maladies neurodegeneratives vues dans le service au sein desquels 45,6% etait originaire de la region de Sikasso. Une transmission autosomique recessive a ete retrouvee dans 67,4% des familles. Les symptomes apparaissaient generalement durant les 10 premieres annees de vie. Un deficit moteur proximal a ete retrouve chez la quasi-totalite des patients. L’echographie cardiaque a revele une cardiomyopathie dilatee dans 4,5% des cas. Conclusion: Les myopathies des ceintures sont des maladies invalidantes presentes au Mali. Une exploration genetique pourrait etayer les differents genes en cause. ABSTRACTIntroduction. Limb-Girdle Muscular dystrophies (LGMD) is a group of inherited diseases characterized by predominantly proximal and limb muscle weakness. These are rare diseases that have not been well studied in sub-saharan Africa. The aim of our was the clinical and paraclinical characterization of patients with recessive LGMD at the Department of Neurology of the Teaching Hospital of Point G. Patients and methods. We conducted a longitudinal prospective study which took place from March 2014 to May 2019. Patients with recessive LGMD phenotype were enrolled. Sociodemographic, clinical and laboratory data were analyzed. Results. We enrolled 46 families (67 patients), i.e. a frequency of 16.7% among the neurodegenerative diseases seen in the service. Among them, 45.6% came from the Sikasso region. Autosomal recessive inheritance pattern was suspected in 67.4% of the families. Symptoms appeared mainly in the first decade of life. Proximal muscle weakness was found in almost all patients. Cardiac examination showed dilated cardiomyopathy in 4.5% of cases. Conclusion. Limb-Girdle muscular dystrophy is a disabling disease that is found in Mali. Further study of these cases could elucidate the underlying genetic defects.