意大利博洛尼亚省20岁以下人群神经肌肉疾病的流行病学

Epidemiology of neuromuscular disorders in the under-20 population in Bologna Province, Italy.

作者信息

Merlini L, Stagni S B, Marri E, Granata C

机构信息

Muscle Clinic Istituto Ortopedico Rizzoli, Bologna, Italy.

出版信息

Neuromuscul Disord. 1992;2(3):197-200. doi: 10.1016/0960-8966(92)90006-r.

DOI:10.1016/0960-8966(92)90006-r

PMID:1483045

Abstract

A retrospective epidemiological survey of the principal neuromuscular disorders was undertaken in the population under the age of 20 yr in Bologna city and province. The incidence of Duchenne muscular dystrophy (DMD) proved to be 25.8 x 10(-5), that is, comparable with the outcome of neonatal screening studies. The incidence of spinal muscular atrophy (SMA) was very high (11.2 x 10(-5), probably the result of our greater awareness and recognition of this disorder. The prevalence of neuromuscular disorders in the 0-19 yr population is 1.5 times that in the general population; that of DMD is 28 x 10(-5) vs 6.3 x 10(-5) and that of the SMA 6.5 x 10(-5) vs 1.2 x 10(-5). Our results indicate that neuromuscular disorders, particularly DMD and SMA I and II, have a much higher prevalence in the first two decades of life than is generally thought. Awareness of the higher prevalence of neuromuscular disorders among the under-20s is essential to the adequate planning of medical services.

摘要

对博洛尼亚市及省20岁以下人群进行了主要神经肌肉疾病的回顾性流行病学调查。杜兴氏肌营养不良症（DMD）的发病率为25.8×10⁻⁵，即与新生儿筛查研究结果相当。脊髓性肌萎缩症（SMA）的发病率非常高（11.2×10⁻⁵），这可能是由于我们对这种疾病有了更高的认识和识别。0至19岁人群中神经肌肉疾病的患病率是普通人群的1.5倍；DMD的患病率为28×10⁻⁵，而普通人群为6.3×10⁻⁵，SMA的患病率为6.5×10⁻⁵，而普通人群为1.2×10⁻⁵。我们的结果表明，神经肌肉疾病，特别是DMD以及SMA I型和II型，在生命的前二十年中的患病率比普遍认为的要高得多。认识到20岁以下人群中神经肌肉疾病的较高患病率对于合理规划医疗服务至关重要。