目的　对面肩肱型肌营养不良症 (FSHD)进行早期诊断和症状前诊断。方法　以p1 3E1 1为探针利用限制性片段长度多态性技术对 5例疑诊FSHD病人及 36例高危人群进行基因诊断。结果　 5例疑诊病人均得到确诊 ,在 36例高危人群中发现 8例症状前患者。结论　对有家族史的仅有双侧面瘫或一侧面瘫的病人 ,以及FSHD高危人群应及早进行基因诊断和症状前诊断。 Objective To diagnose and diagnose facial and shoulder-humerus muscular dystrophy (FSHD) early. Methods Five cases of suspected FSHD patients and 36 high risk groups were genotyped by restriction fragment length polymorphism using p1 3E1 1 as probe. Results All five cases of suspected patients were diagnosed, and 8 cases of pre-symptomatic patients were found in 36 high-risk groups. Conclusions Gene diagnosis and pre-symptomatic diagnosis should be performed as early as possible in patients with family history of only bilateral or bilateral paralysis, as well as at high risk of FSHD.