Vaidla Eve, Talvik Inga, Kulla Andres, Kahre Tiina, Hamarik Malle, Napa Aita, Metsvaht Tuuli, Piirsoo Andres, Talvik Tiina
Department of Paediatrics, Tartu University, Tartu, Estonia.
Neuroepidemiology. 2006;27(3):164-8. doi: 10.1159/000096128.
Spinal muscular atrophy is the second most frequent autosomal-recessive disorder in Europeans. There are no published epidemiological data on SMA in Estonia and other Baltic countries. The aim of this study was to estimate the incidence of SMA I in Estonia. All patients with SMA I diagnosed between January 1994 and December 2003 were included in the study. The diagnosis was established on the basis of neurological evaluation, ENMG findings, molecular studies and muscle biopsy. PCR and restriction enzyme analysis was used to detect the homozygous deletion of the SMN1 gene. A total of 9 cases of SMA I were identified during this 10-year period. The incidence of SMA I in Estonia is 1 in 14,400 live births, which is similar to the result from Hungary but lower than average incidence in the world. Only one of the patients was female. Typical SMN1 gene deletion was found in all cases.
脊髓性肌萎缩症是欧洲第二常见的常染色体隐性疾病。爱沙尼亚及其他波罗的海国家尚无关于脊髓性肌萎缩症的公开流行病学数据。本研究旨在估算爱沙尼亚I型脊髓性肌萎缩症的发病率。1994年1月至2003年12月期间确诊的所有I型脊髓性肌萎缩症患者均纳入本研究。诊断依据神经学评估、神经肌肉电图检查结果、分子研究及肌肉活检确定。采用聚合酶链反应（PCR）和限制性酶切分析检测SMN1基因的纯合缺失。在这10年期间共确诊9例I型脊髓性肌萎缩症。爱沙尼亚I型脊髓性肌萎缩症的发病率为每14,400例活产中有1例，这与匈牙利的结果相似，但低于世界平均发病率。仅1例患者为女性。所有病例均发现典型的SMN1基因缺失。
