Eggers S, Zatz M
Centro de Miopatias, Departamento de Biologia, Instituto de Biologia, USP, São Paulo, Brazil.
J Med Genet. 1998 Mar;35(3):189-95. doi: 10.1136/jmg.35.3.189.
The reproductive history of 177 male patients affected with Becker (BMD) (n=69), limb-girdle (LGMD) (n=54), and facioscapulohumeral (FSHMD) (n=54) muscular dystrophy (MD) was analysed according to severity of the disease (BMD>LGMD>FSHMD) and magnitude of recurrence risk (RR) (high for FSHMD, intermediate for BMD, and low for LGMD). Additionally, 62 male patients were interviewed on psychosocial issues, in order to disentangle the factors influencing reproductive decisions among patients affected with MD. Among male adults, significantly more FSHMD than LGMD or BMD patients were married and had children. Age specific reproductive outcome was 0.31-0.32 for BMD, 0.51-0.62 for LGMD, and 0.58-1.02 for FSHMD, reflecting the influence of the disease's severity. High RRs did not significantly diminish reproduction after genetic counselling or correlate with less prospective desire for children. Instead, early onset, severity of the disease, and past reproductive history were found to diminish reproductive outcome after genetic counselling, and prospective family planning was also found to be influenced by past reproductive history as well as by emotional/sexual dysfunction with the opposite sex.
根据疾病严重程度(贝克肌营养不良症[BMD]>肢带型肌营养不良症[LGMD]>面肩肱型肌营养不良症[FSHMD])和复发风险(RR)大小(FSHMD高,BMD中等,LGMD低),分析了177例患贝克(BMD)(n = 69)、肢带(LGMD)(n = 54)和面肩肱(FSHMD)(n = 54)型肌营养不良症(MD)男性患者的生殖史。此外,对62例男性患者进行了心理社会问题访谈,以梳理影响MD患者生殖决策的因素。在成年男性中,已婚并育有子女的FSHMD患者明显多于LGMD或BMD患者。BMD的年龄特异性生殖结局为0.31 - 0.32,LGMD为0.51 - 0.62,FSHMD为0.58 - 1.02,反映了疾病严重程度的影响。高复发风险在遗传咨询后并未显著降低生育能力,也与生育意愿降低无关。相反,发现发病早、疾病严重程度和既往生殖史会降低遗传咨询后的生殖结局,并且前瞻性计划生育也受到既往生殖史以及与异性的情感/性功能障碍的影响。