Palmieri Beniamino, Sblendorio Valeriana
Clinica Chirurgica, Divisione Chirurgia I, Dipartimento Misto di Chirurgia Generale e Specialith Chirurgiche, Università degli Studi di Modena e Reggio Emilia.
Recenti Prog Med. 2006 Sep;97(9):441-7.
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.
杜兴氏肌肉营养不良症（DMD）是一种X连锁隐性疾病，每3500例男性出生中约有1例受影响。患有杜兴氏病的男孩会出现进行性且可预测的肌肉退化：肌肉缺乏肌营养不良蛋白，这是一种对膜稳定性至关重要的蛋白质，其缺失会导致与收缩相关的膜损伤以及炎症级联反应的激活，从而导致肌肉功能衰竭、坏死和纤维化。尽管DMD在出生时就存在，但临床症状直到2至6岁才会明显。最初的症状包括腿部无力、脊柱后凸加重以及鸭步样步态。持续的肌肉萎缩导致肌肉逐渐变弱，通常使DMD患者在8至12岁时就需要依靠轮椅。90%的长期使用轮椅的男孩会出现脊柱侧弯。肌肉退化的进展和临床症状的恶化会导致患者在二十多岁后期因呼吸/心力衰竭而死亡。
