Distrofia muscular de Emery-Dreifuss tipo 1: un desafío diagnóstico a propósito de un caso

La distrofia muscular de Emery-Dreifuss es una miopatía degenerativa rara con una incidencia global de 1 en 100 000, caracterizada clínicamente por la triada de contracturas en codos, tobillos y columna rígida de inicio cervical y atrofia muscular de inicio humeroperoneal. Los genes relacionados hasta el momento se relacionan con las proteínas de la envoltura nuclear como EMD, LMNA, FHL1, (NE) nesprins-1/2, codificadas por SYNE1 y SYNE2, y SUN1 y SUN2. El presente caso es un paciente masculino de 17 años con detección de variante del gen EMD c.572G>A p.Trp191Ter, homocigoto de significado clínico patogénico con contractura en el tendón de Aquiles sin contractura en codos, disminución de la fuerza muscular, hiporreflexia y sin alteraciones cardiacas. Este caso aporta a la literatura información sobre el fenotipo y genotipo de una de las causas raras de distrofia muscular con alto riesgo de muerte súbita.

• Publication year

  2025

• Venue

  Revista Salud Bosque

• Publication date

  2025-01-31

• Fields of study

  Not labeled

• Identifiers
  DOI 10.18270/rsb.4390
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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