Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
Muscle Nerve
; 56(6): 1096-1100, 2017 Dec.
Article
in 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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Exercise Tolerance
/
Creatine Kinase
/
Myalgia
/
Anoctamins
/
Mutation
Type of study:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Europa
Language:
En
Journal:
Muscle Nerve
Year:
2017
Type:
Article
Affiliation country:
France