[Becker's myotonia in Peru].

Abstract

INTRODUCTION:

The word myotonia was used for the first time by Strümpell 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.

• Authors: L Torres, M Vélez, C Cosentino
• Journal: Revista de neurologia (Rev Neurol) 2000 Jun 1-15 Vol. 30 Issue 11 Pg. 1033-6 ISSN: 0210-0010 [Print] Spain
• Vernacular Title: Miotonía de Becker en Perú.
• PMID: 10904948 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Analgesics, Non-Narcotic
• Carbamazepine

Topics

• Adolescent
• Alleles
• Analgesics, Non-Narcotic (therapeutic use)
• Carbamazepine (therapeutic use)
• Chromosomes, Human, Pair 7 (genetics)
• Diagnosis, Differential
• Electromyography (methods)
• Humans
• Hypertrophy (pathology)
• Male
• Muscle, Skeletal (pathology)
• Myotonia Congenita (diagnosis, drug therapy, genetics)
• Pedigree
• Peru
• Point Mutation (genetics)