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Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients
Author(s) -
Papadopoulos Constantinos,
LaforÊt Pascal,
Nectoux Juliette,
Stojkovic Tanya,
Wahbi Karim,
Carlier RobertYves,
Carlier Pierre G,
LeonardLouis Sarah,
Leturcq France,
Romero Norma,
Eymard Bruno,
Behin Anthony
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25608
Subject(s) - medicine , asymptomatic , myopathy , myalgia , weakness , exercise intolerance , proximal muscle weakness , muscle weakness , muscular dystrophy , dysferlin , limb girdle muscular dystrophy , rhabdomyolysis , creatine kinase , electromyography , cardiology , muscle biopsy , physical therapy , physical medicine and rehabilitation , surgery , biopsy , mutation , heart failure , biochemistry , chemistry , gene
Patients with anoctamin‐5 ( ANO5 ) mutations may present not only with limb‐girdle muscular dystrophy type 2L or adult‐onset Miyoshi‐type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. Materials and Methods Data from 38 patients in France with ANO5 mutations with and without muscle weakness on first examination were compared. Results Twenty patients presented without muscle weakness. Median age at symptom onset or discovery of hyperCKemia was 23 years. Creatine kinase levels ranged from 200 to 40,000 U/L. Electromyography showed a myopathic pattern in 5 patients, and muscle imaging showed involvement of posterior calf muscles in 10 patients. Mild cardiac involvement was observed in 2 patients. Sixteen patients remain free of weakness after a median follow‐up period of 5 years. Discussion Asymptomatic, sometimes mild hyperCKemia or exercise intolerance is a presentation of ANO5‐related myopathy and may remain isolated or precede muscle weakness by many years. Muscle Nerve 56 : 1096–1100, 2017