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

Umbertina C. Reed, Suely K. Nagahashi Marie, Mario Wilson I. Brotto, Carlos Alberto Martinez, Paulo E. Marchiori, Aron Diament, José Antonio Levy
1995 Arquivos de Neuro-Psiquiatria  
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 .
doi:10.1590/s0004-282x1995000100017 pmid:7575194 fatcat:cgqv2ietyveh7epxe6i75lyqlu