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Distrofia muscular
de Emery-Dreifuss
Ligada al comosoma X
Anormalidades en distrofina
Anormalidades musculares discretas y de lenta evolución
Relativamente benigna a comparación de Duchenne
Deficiencia de emerina.
Variantes autosómicas debido a mutaciones del gen de la laminina
Varia su aparición entre la niñez y la adolescencia tardia
• Característica principal:
• Contracturas musculares.
• Iniciando con debilidad en:
• Músculos del brazo
• Cintura escapular
• Cintura pélvica
• Músculos distales de las extremidades inferiores
• Contracturas en:
• Músculos flexores del codo
• Extensores del cuello
• Posteriores de la pantorrilla
• En ocasiones músculos faciales
• NO PRESENTA:
• Hipertrofia
• Seudohipertrofia
• Afeccion del edo. Mental.
• Acompañada de miocardiopatía grave
• Debilidad y contracturas graves en algunos
casos.
• Muerte repentina del px

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DISTROFIA MUSCULAR DE EMERY - DREIFUSS

  • 2. Ligada al comosoma X Anormalidades en distrofina Anormalidades musculares discretas y de lenta evolución Relativamente benigna a comparación de Duchenne Deficiencia de emerina. Variantes autosómicas debido a mutaciones del gen de la laminina Varia su aparición entre la niñez y la adolescencia tardia
  • 3. • Característica principal: • Contracturas musculares. • Iniciando con debilidad en: • Músculos del brazo • Cintura escapular • Cintura pélvica • Músculos distales de las extremidades inferiores
  • 4. • Contracturas en: • Músculos flexores del codo • Extensores del cuello • Posteriores de la pantorrilla • En ocasiones músculos faciales • NO PRESENTA: • Hipertrofia • Seudohipertrofia • Afeccion del edo. Mental. • Acompañada de miocardiopatía grave • Debilidad y contracturas graves en algunos casos. • Muerte repentina del px