Analysis of the largest cohort of patients with anoctaminopathy

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.


Anoctamin-5 related muscle disease: Clinical and genetic findings in a large European cohort. de Bruyn A, Montagnese F, Holm-Yildiz S, Poulsen NS, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. Brain. 2023 Mar 13:awad088. doi: 10.1093/brain/awad088. Epub ahead of print. PMID: 36913258.