Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
Muscle Nerve
; 56(6): 1096-1100, 2017 Dec.
Article
em En
| MEDLINE
| ID: mdl-28187523
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 ANDMETHODS:
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tolerância ao Exercício
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Creatina Quinase
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Mialgia
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Anoctaminas
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Mutação
Tipo de estudo:
Etiology_studies
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Incidence_studies
/
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
França