Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos

Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos

We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the clinical aspects of the atypical form presented by o...

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Bibliographic Details
Main Authors: Umbertina C. Reed, Suely K. Nagahashi Marie, Mario Wilson I. Brotto, Carlos Alberto Martinez, Paulo E. Marchiori, Aron Diament, José Antonio Levy
Format: Article
Language:English
Published: Academia Brasileira de Neurologia (ABNEURO) 1995-03-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
miotonia congênita
miotonia congênita de Becker
miotonia congênita de Thomsen
miotonia fluctuans
tratamento da miotonia
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1995000100017&lng=en&tlng=en
Description
Summary:We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the clinical aspects of the atypical form presented by our patient, the efficacy of the more available drugs employed for the treatment of myotonia congenita is briefly discussed .
ISSN:1678-4227

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