While most (86%) published genetic data on neuromuscular diseases comes from populations of European ancestry, the majority of affected families live in low- to middle-income countries. In 2019, a transcontinental collaboration (Africa, South America, Asia and Europe) began, with the aim of rebalancing the proportion of genetic data from under-represented populations.
Four years after the start of the study, the investigators report:
- More than 6,000 participants (60% from India, but also Brazil, South Africa, Turkey and Zambia), of whom nearly 3,600 were analysed in more detail; 82% of the individuals sequenced were of non-European origin.
- Four disease groups accounted for the majority of patients studied: limb-girdle muscular dystrophies (18%), hereditary peripheral neuropathies (16%), muscular dystrophies and congenital myopathies (9%), and Duchenne and Becker muscular dystrophies (9%).
- 820 people were genetically analysed, with an overall diagnostic yield of 56%. Over 90% had never been genetically tested.
- 58 new variants in 43 genes; almost 29% of the causal mutations identified had never been reported.
