面肩肱型肌营养不良症一例大家系20年随访报告  

Facioscapulohumeral muscular dystrophy:a 20 years follow up of a large kindred.

作　　者：宋国璋[1] 

机构地区：[1]陕西省人民医院外科,西安710068

出　　处：《中国优生与遗传杂志》2006年第1期112-113,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的了解面肩肱型肌营养不良症一例大家系的发展形势,寻求防治方法。方法实际访查该家系所有成员,重绘家系谱图。结果该家系出现第Ⅶ代;现共418人:第Ⅵ代新发病3人:现存患者9人:因先天性疾病早死产15人。结论本病尚无法治疗,危害严重,应依据产前诊断和有效措施,终止本病的继续传递。Objective： To find out the development of facioseapulohumeral muscular dystrophy in a large kindred over the past 20 years. Methods： Interview and examine every member of the kindred, draw a new genealogy. Results： The 7th generation were born. Now the kindred consists of 418 members. 3 members of the 6th generation were found developed the disease. Up to now, 9 affected members of the kindred survived. 15 members died of premature birth or stillbirth because of congenital diseases. Conclusion： The disease is seriously pernicious. Successful therapy method has not been found yet. The transmission of the disease should be stopped, based on prenatal diagnosis and by effective management.

关 键 词：面肩肱型肌营养不良症 常染色体显性遗传 大家系 

分 类 号：R746.2[医药卫生—神经病学与精神病学]