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Miopatía hereditaria con insuficiencia respiratoria temprana

Gabriel García-Alcántara¹, Esther Barbero², Ignacio Ruz-Caracuel³

¹Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Community of Madrid, Spain gabriel.garcia@salud.madrid.org.

Practical neurology

|August 26, 2025

Resumen

La miopatía hereditaria con insuficiencia respiratoria temprana (HMERF) puede causar insuficiencia respiratoria aguda en adultos. El diagnóstico temprano y la consideración de la HMERF son cruciales para los casos de insuficiencia respiratoria inexplicables.

Área de la Ciencia:

Neurología
La genética
Pulmonología

Sus antecedentes:

Las enfermedades neuromusculares pueden manifestarse como insuficiencia respiratoria aguda sin síntomas previos.
La insuficiencia respiratoria en adultos requiere un diagnóstico diferencial amplio.

Objetivo del estudio:

Informar de un caso de una nueva mutación en el gen TTN que causa miopatía hereditaria con insuficiencia respiratoria temprana (HMERF).
Para resaltar la importancia de considerar el HMERF en adultos con insuficiencia respiratoria sin explicación.

Principales métodos:

Presentación clínica y resultados del examen de una mujer de 30 años con disnea progresiva.
El diagnóstico incluye resonancia magnética de los músculos, biopsia muscular y pruebas genéticas.
Identificación de una nueva mutación heterocigótica en el gen TTN.

Principales resultados:

El paciente presentaba insuficiencia respiratoria aguda que requería ventilación no invasiva y exhibió debilidad muscular proximal y distal con alas escapulares.
Las imágenes musculares revelaron un reemplazo selectivo de grasa, y la biopsia mostró vacuolas de borde, estructuras similares al núcleo y agregados de desmina.
El análisis genético identificó una nueva mutación del gen TTN (c.95350G>A, p.Ala31784Thr), confirmando el diagnóstico de HMERF.

Conclusiones:

HMERF es una causa potencial de insuficiencia respiratoria aguda en adultos.
El reconocimiento temprano y las pruebas genéticas para las mutaciones TTN son vitales para el diagnóstico de HMERF en pacientes con insuficiencia respiratoria inexplicable.

Palabras clave:

Enfermedad muscular Miopatía Se trata de una enfermedad neuromuscular.

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