Folstein S E, Leigh R J, Parhad I M, Folstein M F
Neurology. 1986 Oct;36(10):1279-83. doi: 10.1212/wnl.36.10.1279.
We investigated all patients in Maryland reported to have Huntington's disease (HD), and found considerable diagnostic inaccuracy. Fifteen percent of cases reported as HD actually had some other diagnosable condition; 11% of cases that met diagnostic criteria for HD had been given some other diagnosis. Diagnostic errors could be reduced by documentation of the family history by systematic interviewing of relatives and by demonstration of the characteristic disorder of voluntary movement in addition to chorea.
我们调查了马里兰州所有报告患有亨廷顿病(HD)的患者,发现存在相当大的诊断不准确情况。报告为HD的病例中有15%实际上患有其他一些可诊断的疾病;符合HD诊断标准的病例中有11%被给予了其他诊断。通过对亲属进行系统访谈记录家族病史,以及除舞蹈症外还展示特征性的随意运动障碍,诊断错误可以减少。