面肩肱型肌营养不良症的早期诊断与症状前诊断

Early and presymptomatic diagnosis of facioscapulohumeral muscular dystrophy.

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 perform early and presymptomatic diagnosis for facioscapulohumeral muscular dystrophy (FSHD).Methods By use of restricted fragment length polymorphism technique with probe P13E11, we performed gene diagnosis for 5 patients who were suspected of FSHD and 36 at risk relatives of FSHD patients. Results Five patients who were suspected of FSHD got definitive diagnosis. Eight of the 36 relatives at risk got presymptomatic dignosis of FSHD. Conclusions We should perform gene diagnosis as early as possible for patients who have only bilateral or unilateral facial paralysis and have FSHD family history in order to diagnose definitively and early, and for those who are at risk relatives of FSHD patients in order to diagnose presymptomatically.