Miotonía congénita: reporte de un caso Thesis

short description

  • Postgraduate thesis

Thesis author

  • Ariza, Lina Maria
  • Forero Botero, Cesar
  • Peña Guzmán, Laura Lucia

external tutor

  • Gómez Mazuera, Angela


  • Becker syndrome is a congenital myotonia of autosomal recessive inheritance that is produced by mutations in the skeletal muscle chlorine gene (CLCN1) leading to a defect in its function. It generally begins in childhood and myotonia is the main clinical manifestation, which consists of a sensation of immobility after voluntary muscle contraction that is usually accompanied by a ‘‘warm-up’’ effect in which patients present an improvement in myotonia with repeated muscle contraction. . Myotonias can be painful, associated with transient or fixed weakness, and an athletic phenotype is generally seen from infancy. At present, only a symptomatic treatment of myotonias can be offered since there is no modifying pharmacological management of the disease.

publication date

  • January 20, 2022 3:59 PM


  • Becker syndrome
  • Myotonia
  • Myotonia congenita
  • Skeletal muscle chlorine gene

Document Id

  • 0e04e146-bb90-424f-9ffb-17fab798621c