Next-generation sequencing (NGS) performed between 2017 and 2018 in 2,372 patients from 21 countries with recessive limb-girdle muscle weakness revealed that:
- 225 had limb-girdle myopathy and 36 had Pompe disease;
- dysferlinopathy (LGMD-R2) was the most common (26.44%), calpainopathy (LGMD-R1) came second (23.37%), Pompe disease third (13.8%) and sarcoglycanopathy (LGMD-R6) was the rarest (a single case from Brazil).
Since NGS was used to diagnose LGMD in 86.4% of cases and Pompe disease in 13.8%, the authors conclude that the GAA gene should be included in the panel of genes to be studied for limb-girdle muscle weakness.
