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Review
. 2006 Sep;97(9):441-7.

[Duchenne muscular dystrophy: rational basis, state of the art]

[Article in Italian]
Beniamino Palmieri  1 , Valeriana Sblendorio
Affiliations
  • PMID: 17017293
Review

[Duchenne muscular dystrophy: rational basis, state of the art]

[Article in Italian]
Beniamino Palmieri et al. Recenti Prog Med. 2006 Sep.

Abstract

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.

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