title: [Diagnosis and natural history of Duchenne muscular dystrophy].
abstract: Duchenne myopathy is today the most frequently encountered progressive muscular dystrophy in children, with an inexorable, progressive development to death in the third decade. Improvement in survival is related to improvement in orthopaedic management, early screening of cardiac and respiratory complications, but no curative therapy can be applied today beyond recent pharmacogenetic advances. This diagnosis is raised with evidence of proximal muscular deficit beginning after an interval free of symptoms lasting from 1 to several years. Muscular dystrophy's mechanism is suggested by a significant increase in CK (creatine kinase) and confirmed by muscle biopsy. The clinical motor and cognitive heterogeneity of this disease and its natural history need to be well known because it conditions future therapeutic trials. Identification of outcome measures such as the 6-minute walk test, the MFM score, manual muscle testing musculaire, or biomarkers is indispensable for patient follow-up and collaborative studies.
authors.affiliation: Centre de référence Maladies neuromusculaires GNMH, Filière FILNEMUS, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France. Electronic address: lsabelle.desguerre@aphp.fr.
authors.forename: I
authors.initials: I
authors.lastname: Desguerre
authors.affiliation: Unité de neuropématrie, CHU Strasbourg, France.
authors.forename: V
authors.initials: V
authors.lastname: Laugel
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000150:complications / Q000175:diagnosis*