[Duchenne muscular dystrophy: rational basis, state of the art].
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that affects approximately 1 in 3500 male births. Boys with Duchenne have a progressive and predictable muscle deterioration: muscles lack dystrophin, a protein essential for membrane stability, whose absence induces contraction-related membrane damage and activation of the inflammatory cascade leading to muscle failure, necrosis, fibrosis. Although DMD is present at birth, clinical symptoms are not evident until 2-6 years of age. Initial symptoms include leg weakness, increasing spine kyphosis, and a waddle-like gait. Continuous muscle wasting leads to progressively weaker muscles, usually leading DMD patients on wheelchair by the age of 8-12. Scoliosis develops in 90% of boys who use a wheelchair full-time. Progression of muscle degeneration and worsening clinical symptoms lead to death in the late twenties from respiratory/cardiac failure.
Palmieri
Beniamino
B
Clinica Chirurgica, Divisione Chirurgia I, Dipartimento Misto di Chirurgia Generale e Specialith Chirurgiche, Università degli Studi di Modena e Reggio Emilia. palmieri@unimo.it
Sblendorio
Valeriana
V
D016189:Dystrophin / Q000235:genetics; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000503:physiopathology
D016189:Dystrophin