Constantinos Papadopoulos1, Pascal LaforÊt1, Juliette Nectoux2, Tanya Stojkovic1, Karim Wahbi3, Robert-Yves Carlier4, Pierre G Carlier5, Sarah Leonard-Louis1, France Leturcq2, Norma Romero6, Bruno Eymard1, Anthony Behin1. 1. APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France. 2. APHP, Service de Biochimie et Génétique Moléculaire, Cochin Hospital, Paris, France. 3. APHP, Pitié-Salpêtrière Hospital, Myology Institute, Paris, France. 4. Radiological Unit, Teaching Hospital R. Poincaré, University Hospital of Paris, Versailles St Quentin University, Garches, France. 5. CEA, I2BM, MIRCen, IdM NMR Laboratory, Paris, France. 6. Laboratoire de Pathologie Musculaire Risler, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.
Abstract
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.
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.
Authors: André M S Silva; Antônio R Coimbra-Neto; Paulo Victor S Souza; Pablo B Winckler; Marcus V M Gonçalves; Eduardo B U Cavalcanti; Alzira A D S Carvalho; Cláudia F D R Sobreira; Clara G Camelo; Rodrigo D H Mendonça; Eduardo D P Estephan; Umbertina C Reed; Marcela C Machado-Costa; Mario E T Dourado-Junior; Vanessa C Pereira; Marcelo M Cruzeiro; Paulo V P Helito; Laís U Aivazoglou; Leonardo V D Camargo; Hudson H Gomes; Amaro J S D Camargo; Wladimir B V D R Pinto; Bruno M L Badia; Luiz H Libardi; Mario T Yanagiura; Acary S B Oliveira; Anamarli Nucci; Jonas A M Saute; Marcondes C França-Junior; Edmar Zanoteli Journal: Ann Clin Transl Neurol Date: 2019-06-11 Impact factor: 4.511
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