Abstract:
Paediatric neuromuscular diseases are under-recognised and under-diagnosed
in Africa, especially those of genetic origin. This may be attributable to various
factors, inclusive of socioeconomic barriers, high burden of communicable
and non-communicable diseases, resource constraints, lack of expertise in
specialised fields and paucity of genetic testing facilities and biobanks in the
African population, making access to and interpretation of results more
challenging. As new treatments become available that are effective for specific
sub-phenotypes, it is even more important to confirm a genetic diagnosis for
affected children to be eligible for drug trials and potential treatments. This
perspective article aims to create awareness of the major neuromuscular
diseases clinically diagnosed in the South African paediatric populations, as
well as the current challenges and possible solutions. With this in mind, we
introduce a multi-centred research platform (ICGNMD), which aims to address
the limited knowledge on NMD aetiology and to improve genetic diagnostic
capacities in South African and other African populations.
