Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course.
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.
Reed
U C
UC
Department of Neurology, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, Brazil.
Marie
S K
SK
Brotto
M W
MW
Martinez
C A
CA
Marchiori
P E
PE
Diament
A
A
Levy
J A
JA
D000293:Adolescent; D004576:Electromyography; D005260:Female; D006801:Humans; D009224:Myotonia Congenita / Q000175:diagnosis* / Q000628:therapy