The limb-girdle muscular dystrophies (LGMD) continue to be highly heterogeneous neuromuscular diseases, both in clinical and genetic terms. Exploring these disorders in Africa is not an easy process, due to the rarity of these conditions, but also because genetic tests for these conditions are still cruelly lacking on this continent.
However, a team of Malian clinicians and medical biologists have focused on a cohort of patients diagnosed as having LGMD between 2014 and 2019:
- this disease represented almost 16% of all neurodegenerative diseases, in the broadest sense of the term;
- 45% of patients came from the same region, Sikasso, in the south east of the country;
- it was possible to formally determine that autosomal recessive transmission had occurred in 67% of cases and that there was consanguinity in one third of families;
- 5% of patients presented dilated cardiomyopathy.
This cohort now needs to be enhanced using molecular biology.
