Friedreich's ataxia: a clinical review of 20 childhood cases
Küçük Resim Yok
Tarih
1988
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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. 1988 Blackwell Munksgaard
Açıklama
Anahtar Kelimeler
cerebellar ataxia, clinical findings, electrophysiology, Friedreich's ataxia
Kaynak
Acta Neurologica Scandinavica
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
77
Sayı
6
