Title
Becker's myotonia in Peru
Other title
Miotonia de Becker en Peru
Date Issued
01 June 2000
Access level
metadata only access
Resource Type
journal article
Publisher(s)
Revista de Neurologia
Abstract
Introduction. The word myotonia was used for the first time by Strumpell in 1891. Diseases associated with this symptom are called myotonias. They are classified on the basis of their clinical features in: congenita myotonia, paramyotonia congenita, myotonic dystrophy and Schwartz-Jampel syndrome. Becker's myotonia is a generalized congenita nondystrophic myotonia transmitted as an autosomal recessive trait and caused by allelic mutation of the gene encoding the chloride channel CLC-1 of the skeletal muscle fiber surface membrane, localized on chromosome 7q35. At the present time, nondystrophic myotonias are referred as channelopathies. Clinical case. We describe a case of generalized myotonia in a Peruvian young male, descending of Europeans, without familial history. Conclusions. We discuss his clinical symptoms, laboratory and electrophysiologic findings, differential diagnosis, and response to the treatment with carbamazepine. We report the first case of Becker's myotonia in Peru.
Start page
1033
End page
1036
Volume
30
Issue
11
Language
Spanish
OCDE Knowledge area
NeurologÃa clÃnica
Genética, Herencia
TecnologÃa para la identificación y funcionamiento del ADN, proteÃnas y enzimas y como influencian la enfermedad)
ToxicologÃa
Subjects
Scopus EID
2-s2.0-0034210635
PubMed ID
Source
Revista de Neurologia
ISSN of the container
02100010
Sources of information:
Directorio de Producción CientÃfica
Scopus