Africa is, relatively speaking, a kind of terra incognita for neuromuscular diseases in general and Charcot-Marie-Tooth disease (CMT) in particular. Researchers from Mali have recently published a review of the literature on the prevalence of the different forms of the disease on that continent, and another article focusing on CMTX alone. In the latter, transmission is X-linked dominant. Although 400 mutations in the GJB1 gene encoding connexin 32 have been reported worldwide, none have been reported in sub-Saharan Africa until now:
- the authors of the study report clinical and genetic data from three large unrelated families totalling 15 individuals with CMTX1 ;
- three pathological variants of the GJB1 gene were identified (Val91Met, Arg15Trp and Phe235Cys) in this cohort;
- the authors note clinical and electrophysiological heterogeneity among the patients studied;
- one patient had severe sensorineural hearing loss and another had focal partial epilepsy.