新南威尔士州和澳大利亚首都地区杜兴氏肌营养不良症的发病率。
Incidence of Duchenne muscular dystrophy in New South Wales and Australian Capital Territory.
作者信息
Cowan J, Macdessi J, Stark A, Morgan G
出版信息
J Med Genet. 1980 Aug;17(4):245-9. doi: 10.1136/jmg.17.4.245.
Abstract
A survey was conducted during 1977 to 1978 to determine the incidence of Duchenne muscular dystrophy in New South Wales and the Australian Capital Territory. Ninety-nine cases born between 1960 and 1971 were ascertained representing an incidence rate of 18.6 per 100 000 liveborn males. Over 60% of the ascertained males were isolated cases, and only 7% of affected males had an affected males relative in a previous generation in the female line. Categorisation of ascertained cases as either "theoretically preventable" or not shows that genetic counselling alone in the present circumstances is insufficient to reduce the incidence rate significantly.
摘要
1977年至1978年期间进行了一项调查，以确定新南威尔士州和澳大利亚首都直辖区杜氏肌营养不良症的发病率。确定了1960年至1971年出生的99例病例，发病率为每10万名活产男性中有18.6例。超过60%的确诊男性为散发病例，只有7%的患病男性的母系上一代有患病男性亲属。将确诊病例分类为“理论上可预防”或“不可预防”表明，在目前情况下，仅靠遗传咨询不足以显著降低发病率。
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