Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients
| Autor: | Constantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, Tanya Stojkovic, Karim Wahbi, Robert-Yves Carlier, Pierre G Carlier, Sarah Leonard-Louis, France Leturcq, Norma Romero, Bruno Eymard, Anthony Behin |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
myalgia Weakness medicine.medical_specialty Physiology business.industry Muscle weakness Exercise intolerance medicine.disease Asymptomatic 03 medical and health sciences Cellular and Molecular Neuroscience 030104 developmental biology 0302 clinical medicine Physiology (medical) Internal medicine medicine Neurology (clinical) medicine.symptom Muscular dystrophy business Myopathy Rhabdomyolysis 030217 neurology & neurosurgery |
| Zdroj: | Muscle & Nerve. 56:1096-1100 |
| ISSN: | 0148-639X 1096-1100 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text