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AME: Desafío de Atrofia Muscular Espinal

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Test sobre AME

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AME: Desafío de Atrofia Muscular Espinal
 

AME: Desafío de Atrofia Muscular EspinalOnline version

Test sobre AME

by Joel Ramirez Carrera
1

¿Qué es la Atrofia Muscular Espinal (AME)?

2

¿Qué tipo de herencia tiene la AME?

3

¿Qué gen está principalmente implicado en la AME?

4

¿Qué ocurre con el gen SMN1 en la AME?

5

¿Qué produce el gen SMN1?

6

¿Qué pasa si SMN1 falla?

7

¿Qué hace SMN2 en la AME?

8

Incidencia mundial de la AME?

9

Portadores de la AME en la población?

10

¿Cuándo se detecta la AME en diagnóstico?

Explicación

La AME es neuromuscular y genética, con debilidad progresiva.

La AME se transmite de manera autosómica recesiva.

La mutación o deleción en SMN1 es clave en la AME.

En >95% de casos falta el exón 7 de SMN1.

SMN1 sintetiza la proteína SMN necesaria para neuronas motoras.

Falla SMN1 → muerte de neuronas motoras y atrofia muscular.

SMN2 genera poco SMN; no compensa SMN1.

La AME es rara; incidencia ≈ 1:6,000–10,000.

Portadores típicos cercanos a 1:35–50.

Detección puede ser prenatal, neonatal o en infancia.

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