January 11, 2020, 09:25 - 09:45
Congenital muscular dystrophies and neuromuscular disorders are characterized by a heterogeneity in clinical presentations, a growing list of underlying causative genes, different patterns of inheritance mainly autosomal recessive, and the requirement of a complex care, particularly in the congenital group.
A significant progress has been made in the diagnostic procedures, tools for prevention, guidelines of health care as well as in therapeutic modalities curing congenital forms of muscular dystrophies.
The discussion is aiming at the better understanding of the community priorities with regard the so classified "rare genetic diseases", contributing further forward steps in care and curing "Neurogenetic disorders" as part of Qatar vision plans in 2030.