Pearn J H, Wilson J
Arch Dis Child. 1973 Jun;48(6):425-30. doi: 10.1136/adc.48.6.425.
76 cases of acute Werdnig-Hoffmann disease (acute infantile spinal muscular atrophy) have been reviewed. The cases comprise an unselected consecutive series in which rigid diagnostic criteria have been applied. The natural history of the disease has been investigated. In at least one-third of cases the disease is manifest before or at delivery. All cases have shown delayed milestones by 5 months of age: 95% are dead by 18 months. Cumulative frequency curves for age at onset and age at death figures are presented for use both as prognostic guidelines and as aids in the management of sibs of index cases. Diagnosis, management, and genetic implications are discussed.
对76例急性韦尔尼克-霍夫曼病（急性婴儿脊髓性肌萎缩症）进行了回顾性研究。这些病例是一个未经筛选的连续系列，应用了严格的诊断标准。对该疾病的自然史进行了调查。至少三分之一的病例在出生前或出生时就已表现出症状。所有病例在5个月大时均出现发育迟缓：95%在18个月时死亡。给出了发病年龄和死亡年龄的累积频率曲线，用作预后指导以及对索引病例同胞管理的辅助工具。讨论了诊断、管理和遗传意义。
