Luna-Angulo AB, Suárez-Sánchez R, Cortés-Callejas H, Ruano-Calderón L, Escobar-Cedillo RE, Tapia-Guerrero Y, Márquez-Quiróz L, Jano-Ito J, Cedeño-Garciadueñas AL, Leyva-García N, Hernández-Hernández O, Sánchez-Chapul L, Magaña-Aguirre JJ

Idioma: Español
Referencias bibliográficas: 69
Paginas: 9-26
Archivo PDF: 371.73 Kb.

RESUMEN

En México cerca de seis millones de personas presentan algún tipo de discapacidad, siendo las enfermedades neuromusculares (ENM) una de las causas más frecuentes de invalidez y muerte. Las ENM son condiciones complejas que no sólo afectan al músculo, sino también a la unión neuromuscular, al nervio periférico o a la motoneurona espinal. La gran variabilidad clínica y genética de las ENM dificulta su diagnóstico; en muchos casos se identifican tardíamente o en algunos casos el diagnóstico no llega a realizarse, ya sea por falta de recursos económicos o por desconocimiento de los centros especializados dedicados al estudio de las ENM. En este artículo presentamos una descripción general de las ENM más frecuentes en nuestra población, así como los resultados obtenidos tras la implementación del diagnóstico molecular en el Instituto Nacional de Rehabilitación, en el periodo de los tres últimos años. El trabajo conjunto por los laboratorios de investigación ha impactado en el área asistencial, logrando la confirmación diagnóstica de 636 pacientes, beneficiándolos con un tratamiento más adecuado para cada tipo de patología, acompañado de asesoramiento genético, ayuda psicológica y programas de inclusión social. Los resultados muestran el estado actual y los avances que se tienen a partir del desarrollo de las pruebas diagnósticas que se ofrecen en el instituto. Finalmente, se discuten las perspectivas y el área de oportunidad en el diagnóstico molecular, así como el desarrollo de múltiples pruebas diagnósticas que ya se encuentran en implementación.

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