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Síndrome de McArdle - Symptom

Nombres alternativos

Enfermedad del almacenamiento de glucógeno tipo V (EAGV); Deficiencia de miofosforilasa; Deficiencia de glucógeno fosforilasa en los músculos; Deficiencia de PYGM

Síntomas:

Los síntomas por lo regular empiezan durante la primera infancia. Sin embargo, puede ser difícil diferenciar estos síntomas de los de una infancia normal y el diagnóstico posiblemente no se dé hasta que una persona tenga 20 o 30 años.

  • Orina color borgoña (mioglobinuria)
  • Fatiga
  • Intolerancia al ejercicio, poco vigor
  • Calambres musculares
  • Dolor muscular
  • Rigidez muscular
  • Debilidad muscular

Pruebas y exámenes:

Se pueden llevar a cabo los siguientes exámenes:

  • Reviewed last on: 3/29/2011
  • A.D.A.M. Editorial Team: David Zieve, MD, MHA, and David R. Eltz. Previously reviewed by Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (1/21/2010).
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