Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings.
1984; BMJ; Volume: 59; Issue: 3 Linguagem: Inglês
10.1136/adc.59.3.217
ISSN1468-2044
AutoresR Ackroyd, J A Finnegan, S H Green,
Tópico(s)Mitochondrial Function and Pathology
ResumoIn a review of twelve cases of Friedreich9s 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.
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