title: Friedreich's ataxia: a clinical review of 20 childhood cases.
abstract: The authors report the clinical review of 20 childhood cases with Friedreich's ataxia. The mean age at onset of symptoms was 6.1 years. The main presenting symptom was abnormal gait (100%). Ataxia of gait and limbs and depressed or absent tendon reflexes were found in all cases. Clinical findings are in accordance with the findings of Harding and Werdelin. Neurophysiological studies (especially sensory) are important in the confirmation of the diagnosis. Of the 10 cases in which sensory nerve conduction velocity measurements were performed, 7 had absent sensory action potentials, 2 had decreased potentials and one was normal. In our study, it is shown that in patients having ataxic gait, ataxia of limbs and tendon reflexes depression or loss, Friedreich's ataxia may be diagnosed with the help of electrophysiological studies.
authors.affiliation: Department of Child Neurology, Aegean University, Bornova, Izmir, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Ulkü
authors.forename: N
authors.initials: N
authors.lastname: Araç
authors.forename: A
authors.initials: A
authors.lastname: Ozeren
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D048909:Diabetes Complications; D004562:Electrocardiography; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D005684:Gait; D006321:Heart / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D009431:Neural Conduction; D012026:Reflex, Stretch