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1978年,我们观察到一个家族三代中有本病患者8例,3男5女。存活5例中4例作了详细的家谱调查、神经系统检查及鉴别诊断,并长期随访。另1例系首都医院确诊。死亡者由其亲属提供资料,家谱分析符合常染色体显性遗传规律。鉴于国内对本病的家谱调查鲜有报道,现将其整理报道如下: 病例简介先证者男性,29岁,工人,山东籍。六年前出现双下肢无力及僵硬感,缓慢发展,渐感步态不稳,常与他人碰撞及摔倒。但仍坚持工作。查:神清合作,智力正常,剪刀步态,短
In 1978, we observed 8 patients, 3 males and 5 females, with this disease in three generations of a family. Survival in 5 cases in 4 cases made a detailed pedigree investigation, neurological examination and differential diagnosis, and long-term follow-up. Another case was diagnosed in Capital Hospital. The dead were provided information by their relatives and the pedigree analysis was consistent with autosomal dominant inheritance. Given the domestic genealogy survey of the disease rarely reported now its report as follows: Case Profile Proof of the male, 29 years old, workers, Shandong membership. Six years ago, there was a feeling of weakness and stiffness in both lower extremities, developing slowly, gradually becoming unstable and often colliding with others and falling down. But still insist on work. Check: Shenqing cooperation, mental normal, scissors gait, short