Document Detail

Friedreich's ataxia: a clinical review of 20 childhood cases.
MedLine Citation:
PMID:  3407387     Owner:  NLM     Status:  MEDLINE    
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.
A Ulkü; N Araç; A Ozeren
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta neurologica Scandinavica     Volume:  77     ISSN:  0001-6314     ISO Abbreviation:  Acta Neurol. Scand.     Publication Date:  1988 Jun 
Date Detail:
Created Date:  1988-09-12     Completed Date:  1988-09-12     Revised Date:  2006-08-16    
Medline Journal Info:
Nlm Unique ID:  0370336     Medline TA:  Acta Neurol Scand     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  493-7     Citation Subset:  IM    
Department of Child Neurology, Aegean University, Bornova, Izmir, Turkey.
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MeSH Terms
Child, Preschool
Diabetes Complications
Friedreich Ataxia / complications,  diagnosis*,  physiopathology
Heart / physiopathology
Mental Retardation / complications
Neural Conduction
Reflex, Stretch

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