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Miotonía congénita - Symptom

Nombres alternativos

Enfermedad de Thomsen; Enfermedad de Becker

Síntomas:

El signo característico de esta afección es la miotonía, que es la incapacidad que tiene un músculo de relajarse rápidamente después de contraerse. Por ejemplo, después de un apretón de manos, la persona sólo es capaz de abrir la mano y retirarla muy lentamente.

Los primeros síntomas pueden abarcar:

  • Dificultad para deglutir
  • Náuseas
  • Movimientos rígidos que mejoran al repetirlos
  • Dificultad respiratoria u opresión en el pecho al comienzo del ejercicio

Los niños con miotonía congénita tienden a parecer musculosos y bien desarrollados y es posible que no presenten síntomas de la enfermedad hasta la edad de dos o tres años.

Pruebas y exámenes:

El médico puede preguntar si hay antecedentes familiares de miotonía congénita.

Los exámenes abarcan:

  • Reviewed last on: 3/21/2010
  • David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Luc Jasmin, MD, PhD, Department of Neurosurgery at Cedars-Sinai Medical Center, Los Angeles, and Department of Anatomy at UCSF, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Barohn RJ. Muscle diseases. Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 447.

Bernard G, Shevell MI. Channelopathies: a review. Pediatr Neurol. 2008 Feb;38(2):73-85.

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