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挪威南部儿童神经肌肉疾病。患病率、诊断年龄及分布情况,特别提及“非杜氏肌营养不良症”

Child neuromuscular disease in southern Norway. Prevalence, age and distribution of diagnosis with special reference to "non-Duchenne muscular dystrophy".

作者信息

Tangsrud S E, Halvorsen S

机构信息

National Institute of Public Health, Ullevaal Hospital, Oslo, Norway.

出版信息

Clin Genet. 1988 Sep;34(3):145-52. doi: 10.1111/j.1399-0004.1988.tb02854.x.

Abstract

The prevalence of child neuromuscular disease in Southern Norway by January 1st, 1983, was studied by collecting data from all available sources. All children born 1. 1. 1965 or later were included in the study. The total group consisted of 110 patients from 17 different diagnostic categories. Total prevalence on this group was found to be 24.9 X 10(5). Duchenne muscular dystrophy (DMD), with a prevalence of 10.89 X 10(5) constituted 29.2% of the total material. In the spinal muscle atrophy group (SMA), we found a significant increase in the number of boys affected, although an autosomal recessive mode of inheritance was found likely in all probands. Prevalence figures of child neuromuscular disease are hard to compare, as most studies deal with an adult population. The prevalences of common and well-known large categories of neuromuscular diseases in childhood are in agreement with previous studies. For less well known and mild diseases, our figures are low. This may be due in part to a later onset and in part to a health system not sensitive to parents' complaints.

摘要

通过收集所有可用来源的数据,对截至1983年1月1日挪威南部儿童神经肌肉疾病的患病率进行了研究。所有在1965年1月1日或之后出生的儿童均纳入研究。该组总计110例患者,分属17种不同诊断类别。该组的总患病率为24.9×10⁻⁵。杜氏肌营养不良症(DMD)患病率为10.89×10⁻⁵,占全部病例的29.2%。在脊髓性肌萎缩症组(SMA)中,我们发现受累男孩数量显著增加,尽管所有先证者可能都存在常染色体隐性遗传模式。儿童神经肌肉疾病的患病率难以比较,因为大多数研究针对的是成年人群。儿童期常见且广为人知的大类神经肌肉疾病的患病率与先前研究一致。对于不太知名和症状较轻的疾病,我们得出的数据较低。这可能部分归因于发病较晚,部分归因于医疗系统对家长投诉不敏感。

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