Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy
Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy
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DOI：
10.1212/01.wnl.0000244471.05316.19
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发表时间：
2006-11-28
期刊：
影响因子：
9.9
通讯作者：
Tawil, R.
中科院分区：
文献类型：
--
作者：
Ciafaloni, E.;Pressman, E. K.;Tawil, R.
面肩肱骨肌营养不良症（FSHD）是第二常见的成人肌肉营养不良症，估计患病率为1:20 000。该疾病主要是遗传性的，与4q35染色体上3.3 kb重复DNA序列的可变大小缺失有关。致病基因尚未确定，该病的病理生理机制尚不清楚。它在男性和女性中同样发生，但女性受到的影响往往不如男性严重。疾病进展通常缓慢，预期寿命正常，尽管约20%的患者需要坐轮椅。（1,2）目前，指导产科医生和神经科医生对计划怀孕和分娩的FSHD妇女进行咨询的信息有限。(3)妊娠对肌无力进展的可能影响尚不清楚。
Facioscapulohumeral muscular dystrophy ( FSHD) is the second most common adult muscular dystrophy with an estimated prevalence of 1:20 000. The disease is dominantly inherited and linked to a deletion of variable size in a 3.3-kb repetitive DNA sequence on chromosome 4q35. A causative gene has not been identified, and the pathophysiology of the disease remains unclear. It occurs equally in males and females, but women tend to be less severely affected than men. Disease progression is usually slow, and life expectancy is normal, although about 20% of patients become wheelchair bound.(1,2)There is limited information currently available to guide obstetricians and neurologists in counseling women with FSHD who are planning to become pregnant and give birth.(3) The possible effect of pregnancy on the progression of muscle weakness is unknown.