title: [Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular Dystrophy].
abstract: Becker muscular dystrophy (BMD) was first described in 1955 and linked to the DMD gene in 1987. Compared to Duchenne muscular dystrophy (DMD), clinical onset of BMD usually occurs after the age of 12 and wheelchair is required after the age of 16. BMD is characterized by generalized weakness first affecting limb girdle muscles, hypertrophy of the calves and cardiomyopathy in males. Some patients have only mild symptoms such as cramps or elevated serum creatine kinases (SCK) throughout all their lives. SCK levels are usually elevated. Muscle biopsy (immunohistochemistry or immunoblotting) shows a dystrophic pattern with abnormal dystrophin staining. Diagnosis is confirmed by DMD gene sequencing. Deletions or duplications of one or several exons are identified in the majority of cases. A multidisciplinary approach is recommended for the care management of these patients with a particular attention to the cardiomyopathy, which is typically responsible for death but can be prevented by specific treatment. X-linked dilated cardiomyopathies linked to DMD gene are a phenotypic continuum of BMD. Some female carriers of DMD mutations exhibit clinical symptoms of variable severity, often milder and beginning later than in males. The cardiomyopathy is the most frequent feature that should be especially monitored in these patients. Genetic counselling should be systematically proposed.
authors.affiliation: Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Nantes. Electronic address: Armelle.magot@chu-nantes.fr.
authors.forename: A
authors.initials: A
authors.lastname: Magot
authors.affiliation: Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Nantes.
authors.forename: S
authors.initials: S
authors.lastname: Mercier
authors.affiliation: Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Nantes.
authors.forename: Y
authors.initials: Y
authors.lastname: Péréon
mesh_terms: D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*