Gardner-Medwin D, Sharples P
Newcastle General Hospital, Newcastle upon Tyne, U.K.
Brain Dev. 1989;11(2):91-7. doi: 10.1016/s0387-7604(89)80075-0.
The prevalence of Duchenne muscular dystrophy in the North of England (population 3.07 million) was 4.0 x 10(-5) in 1968, 3.6 x 10(-5) in 1979 and at least 2.3 x 10(-5) in 1988. The incidence in males was 31.2, 22.4 and at least 17.8 x 10(-5) in successive decades since 1952. Thirty-five percent of cases over the last 35 years have been preventable; but recently major additional educational programmes and routine screening tests for presymptomatic cases would have been required to improve prevention. The mortality has not changed in the last 20 years. Previously published criteria for the diagnosis of autosomal recessive muscular dystrophy in childhood have been tested prospectively. Seven new children fitting these criteria and 6 other girls with muscular dystrophy are described. Only 5 appear to have the autosomal recessive disease. Two boys had DNA deletions and 2 girls were severely manifesting carriers of the Duchenne gene.
1968年，英格兰北部（人口307万）杜氏肌营养不良症的患病率为4.0×10⁻⁵，1979年为3.6×10⁻⁵，1988年至少为2.3×10⁻⁵。自1952年以来，男性的发病率在连续几十年中分别为31.2、22.4以及至少17.8×10⁻⁵。在过去35年中，35%的病例是可以预防的；但最近需要开展更多的主要教育项目以及对症状前病例进行常规筛查测试，以改善预防效果。过去20年中死亡率没有变化。此前发表的儿童常染色体隐性肌营养不良症诊断标准已进行前瞻性测试。描述了7名符合这些标准的新患儿以及6名患有肌营养不良症的其他女孩。似乎只有5例患有常染色体隐性疾病。两名男孩存在DNA缺失，两名女孩是杜氏基因的严重显性携带者。
