Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients

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 Franc...

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Bibliographic Details
Published in:Muscle & nerve 2017-12, Vol.56 (6), p.1096-1100
Main Authors: 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
Format: Article
Language:English
Subjects:
Adult
anoctamin 5
Anoctamins - genetics
Asymptomatic Diseases - epidemiology
Cohort Studies
Creatine
Creatine kinase
Creatine Kinase - blood
Dystrophy
Electromyography
exercise intolerance
Exercise Tolerance - physiology
Female
Follow-Up Studies
France - epidemiology
Health risk assessment
Heart diseases
Humans
hyperCKemia
Intolerance
limb‐girdle muscular dystrophy
Male
Middle Aged
Miyoshi myopathy type 3
Muscle Weakness - blood
Muscle Weakness - epidemiology
Muscle Weakness - genetics
Muscles
Muscular Diseases - blood
Muscular Diseases - epidemiology
Muscular Diseases - genetics
Muscular dystrophy
Mutation
Mutation - genetics
Myalgia
Myalgia - blood
Myalgia - epidemiology
Myalgia - genetics
Myopathy
Patients
Retrospective Studies
Rhabdomyolysis
Serum levels
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Summary: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
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.25608