Clinical and laboratory features of recessive Limb Girdle Muscular dystrophies in the Department Neurology of University Hospital of Point G

Introduction 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.