Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings.
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.
D000200:Action Potentials; D000293:Adolescent; D006332:Cardiomegaly / Q000150:complications; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D004562:Electrocardiography; D004576:Electromyography; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000503:physiopathology; D005684:Gait; D006347:Heart Sounds; D006801:Humans; D008297:Male; D009431:Neural Conduction; D012026:Reflex, Stretch