Acetazolamide-responsive myotonia congenita
| Autor: | Robert C. Griggs, Kenneth K. Kaiser, Randall G. Trudell |
|---|---|
| Rok vydání: | 1987 |
| Předmět: |
musculoskeletal diseases
Adult Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Myotonia Congenita Internal medicine Biopsy medicine Humans medicine.diagnostic_test business.industry Myotonia congenita Muscles Acetazolamide responsive myotonia congenita Muscle stiffness medicine.disease Myotonia Autosomal dominant form nervous system diseases Pedigree body regions Acetazolamide Endocrinology Glucose Potassium Female Neurology (clinical) business medicine.drug |
| Zdroj: | Neurology. 37(3) |
| ISSN: | 0028-3878 |
| Popis: | We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing from most cases of autosomal dominant or recessive myotonia congenita. All patients had painful muscle stiffness that was provoked by fasting and oral potassium administration and was relieved by carbohydrate-containing foods. Muscle biopsies showed the presence of type 1, 2A, and 2B fibers, as opposed to the absence of type 2B fibers seen in some patients with myotonia congenita. Acetazolamide was dramatically effective in alleviating myotonia in all patients and was more effective than other antimyotonic agents. |
| Databáze: | OpenAIRE |
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