Understanding the role of clinical phenotypes on motor outcomes in patients with anoctamin-5-related muscle disease

Biallelic mutations of anoctamin-5 gene (ANO5) underlie four autosomal recessive muscle phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), distal muscular dystrophy type 3 (MMD3), pseudometabolic myopathy, and asymptomatic hyperCKemia. Although ANO5 muscle disorders are rare, their prevalence is relatively high in European populations.
Findings from this European cohort (n=234 patients with ANO5) identified LGMD-R12 (52.6%) and MMD3 (13.2%) subgroups predominantly affecting males resulting in worse motor outcome (higher risk of using walking aids earlier: P=0.035).
According to the authors, these data may support the development of future trials and novel therapeutic agents for managing ANO5-related muscle disorders in clinical practice.