Rhabdomyolysis as an uncommon manifestation of anoctamin-5 muscular dystrophy

Anoctamin-5 (ANO5) muscular dystrophy is a rare neuromuscular disease originated by homozygous mutations in ANO5, a gene encoding a protein with the same name located on chromosome 11. ANO5 is a calcium-activated chloride channel that is highly expressed in heart and skeletal muscle. It is a rare cause of inherited rhabdomyolysis. Understanding this phenotype is crucial for accurate and timely diagnosis.We must emphasize how meticulous medical history taking along with a high index of suspicion are essential to diagnose this disease.Currently, there is no specific treatment for this condition, but management should include avoiding heavy muscle training and use of statins.