Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings.
Open Access
- 1 March 1984
- journal article
- review article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 59 (3) , 217-221
- https://doi.org/10.1136/adc.59.3.217
Abstract
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.This publication has 19 references indexed in Scilit:
- Case Report Echocardiographic Observations in Patients with Friedreich’s AtaxiaThe Lancet Healthy Longevity, 1981
- Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.Journal of Neurology, Neurosurgery & Psychiatry, 1981
- FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURESBrain, 1981
- Left ventricular function in Friedreich's ataxia. An echocardiographic study.Heart, 1980
- Hypertrophic Cardiomyopathy in Friedreich's Ataxia: Symmetric or Asymmetric?Canadian Journal of Neurological Sciences, 1980
- Peripheral and central somatosensory nerve conduction defects in Friedreich's ataxia.Journal of Neurology, Neurosurgery & Psychiatry, 1980
- Axonal filamentous spheroids associated with cardiomyopathy with “targetoid fibers”Neurology, 1974
- Nerve Conduction Studies in Children with Friedreich's Ataxia and Ataxia‐telangiectasiaDevelopmental Medicine and Child Neurology, 1973
- An electrophysiological and pathological study of peripheral nerves in Friedreich's ataxiaJournal of the Neurological Sciences, 1971
- Electrophysiological and histological studies in patients with Friedreich's ataxia : J. G. McLeod (Sydney, Australia)Electroencephalography and Clinical Neurophysiology, 1969