Ackroyd R S, Finnegan J A, Green S H
Arch Dis Child. 1984 Mar;59(3):217-21. doi: 10.1136/adc.59.3.217.
In a review of twelve cases of Friedreich's ataxia, the important criteria for early diagnosis were identified. Clinical signs included absent tendon reflexes, ataxic gait, and a positive Romberg test. Nerve conduction velocities showed absent or severely slowed sensory conduction, with normal motor conduction. In addition, echocardiographic changes of symmetrical hypertrophic cardiomyopathy were found.
在对12例弗里德赖希共济失调病例的回顾中,确定了早期诊断的重要标准。临床体征包括腱反射消失、共济失调步态和闭目难立试验阳性。神经传导速度显示感觉传导缺失或严重减慢,而运动传导正常。此外,发现了对称性肥厚型心肌病的超声心动图改变。