Muscle & nerve · 2017
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
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Papadopoulos Constantinos, LaforÊt Pascal, Nectoux Juliette, Stojkovic Tanya, Wahbi Karim, Carlier Robert-Yves, Carlier Pierre G, Leonard-Louis Sarah, Leturcq France, Romero Norma, Eymard Bruno, Behin Anthony
Аннотация
INTRODUCTION: 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.
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.