ISSN:
1590-3478
Keywords:
Friedreich's ataxia
;
Neuropathy
;
Pyruvate test
;
Lipoamide dehydrogenase
;
Cardiomyopathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Description / Table of Contents:
Sommario Si presenta uno studio clinico, neurofisiologico e biochimico di 18 pazienti con diagnosi presuntiva di atassia di Friedreich. I dati portano ad inquadrare nella malattia di Friedreich tipica solo 14 pazienti, gli altri 4 si differenziano per diversi aspetti clinici di cui il più rilevante è la normalità cardiaca. Si conclude quindi che per giungere alla diagnosi di malattia di Friedreich che permetta in seguito uno studio biochimico della malattia, sia necessario un approccio multidisciplinare.
Notes:
Abstract Eighteen patients with the presumptive diagnosis of Friedreich's ataxia were studied. Clinical, neurophysiological and biochemical data were concordant in 14 patients and led to the diagnosis of typical Friedreich's ataxia in this group of patients: the remaining 4 patients differed from the typical patients in several respects but mainly in the cardiological findings. It is concluded that so far no single clinical or laboratory finding is typical of F.A.. Multidisciplinary approaches are essential to the diagnosis of Friedreich's ataxia.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02336703
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