Aggiornamento
Nuovi concetti nel campo della distrofia muscolare di Duchenne
New standards of care and new therapies in Duchenne muscular dystrophy
Marika Pane, Flaviana Bianco, Concetta Palermo, Alessandra Graziano, Eugenio Mercuri
Istituto di Neuropsichiatria Infantile, Policlinico A. Gemelli, Roma
Settembre 2012 - pagg. 429 -435
Abstract
Duchenne muscular dystrophy has an incidence of 1 in 3,500 male live births and is the
most common muscular dystrophy in childhood. The “typical” course of the disease is
characterized by progression of muscle weakness and contractures leading to loss of
ambulation before 13 years. The involvement of heart and respiratory muscles are responsible
for progressive cardiac and respiratory impairment. In the last few years the
introduction of standards of care leading to a better management of cardiac and respiratory
complications has produced a progressive increase in survival. These aspects are
even more important at the time new therapies are entering the clinical arena. In this article
an update on standards of care and on the management of these patients as well
as some information on new therapies are reported.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
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Corrispondenza: marika.pane@rm.unicatt.it