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Miotonía congénita - Información general

Nombres alternativos

Enfermedad de Thomsen

Definición:

Es un trastorno hereditario que afecta la relajación de los músculos. Es congénito, lo cual significa que está presente al nacer.

Causas, incidencia y factores de riesgo:

La miotonía congénita es causada por un cambio (mutación) en un gen y es transmitida ya sea por uno o por ambos padres a sus hijos (hereditaria).

Se cree que la miotonía congénita es causada por un problema en la parte de las células musculares que se necesitan para que los músculos se relajen. Se presentan descargas eléctricas repetitivas y anormales en los músculos, causando una rigidez llamada miotonía.

  • Fecha de revisión: 4/28/2008
  • Versión en inglés revisada por:Luc Jasmin, MD, PhD, Departments of Anatomy & Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
  • Traducción y localización realizada por: DrTango, Inc

Referencias

Barohn RJ. Mucle Diseases. Goldman L, Ausiello D, eds. Cecil Textbook of Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 447.

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