An international multicentre study reports the results of the analysis of the characteristics of 234 patients with ANO5-related myopathy (limb-girdle muscular dystrophy type R12 or LGMD R12, distal muscular dystrophy type 3 or MMD3, ANO5-related pseudometabolic myopathy and asymptomatic hyperCKemia). The data collected included the following:
- all subgroups, except for pseudometabolic myopathy, show a male predominance;
- Overall, the disease starts at a median age of 33 years, with a later onset in LGMD R12 ;
- myalgia is the most common first symptom, followed by muscle intolerance on exertion;
- in the lower limbs, although proximal muscle weakness is predominant, distal weakness is relatively common;
- heart rhythm abnormalities are sometimes present;
- in 80% of cases at term, unassisted walking is preserved;
- no significant genotype/phenotype correlation has been found.
