“Psicológicamente es machacante. Hasta dar con el diagnóstico, para el mundo son unos vagos”. En el patio del colegio no pueden hacer las mismas carreras que el resto de los niños, fuera de casa padecen de evidentes limitaciones profesionales y en el ámbito familiar son vistos como la oveja negra que busca excusas para no moverse.
Éstas son, según Juan Vílchez, jefe del Servicio de Neurología del Hospital La Fe, de Valencia, las devastadoras consecuencias del síndrome de McArdle, un tipo de glucogenosis (concretamente el V) causada por un déficit congénito de la enzima fosforilasa en el músculo esquelético por el cual el organismo se torna incapaz para descomponer las moléculas de glucógeno, que constituyen una importante fuente de energía para mantenerse en activo.
Clínicamente, este desorden “se caracteriza por la intolerancia al ejercicio, que se hace patente por la aparición de dolores musculares, calambres y contracciones isométricas tras la realización de esfuerzos físicos, y lleva a que a menudo se tome al paciente por un afectado por el síndrome de fatiga crónica”, indica Vílchez. La sintomatología se completa con una progresiva debilidad muscular y la posible aparición de mioglobinuria secundaria a la rabdomiolisis o destrucción masiva de las fibras musculares. “Una mioglobinuria intensa puede dañar el riñón y ocasionar una insuficiencia renal grave con riesgo de muerte”, apunta el experto. En cualquier caso, el síndrome de McArdle en sí mismo no varía la esperanza de vida.
Pero, ¿qué pone al profesional sanitario sobre la pista? “Al margen de la clínica, la ausencia de lactato en sangre tras una prueba de esfuerzo sirve para encarrilar el diagnóstico. Sin embargo, éste no será definitivo de no confirmarse por medio de una biopsia”.
Altamente incapacitante
Dependiendo del grado de afectación, que no suele debutar antes de los 20 años, aunque se dan casos en recién nacidos, la calidad de vida se verá perjudicada en mayor o menor medida. “Lo que está claro es que se trata de una enfermedad que acarrea ciertas barreras funcionales”. Levantarse de la cama, subir escaleras o cargar y descargar material son para estos pacientes tareas más complejas (y hasta imposibles) de lo que, en principio, deberían ser.
La experiencia ha demostrado que, si bien la primera reacción tras el inicio de una actividad física es la aparición de este cuadro típico de fatiga generalizada que parece casi una tortura, la continuidad hace que el paciente desarrolle una mayor capacidad para ejercitarse en condiciones alejadas.
La primera fase serviría así a modo de calentamiento. Superado el miedo escénico, las bebidas isotónicas, por su alto contenido en glucosa, deben ser parte del material obligado a incluir en la bolsa de deporte; eso sí, tampoco hay que forzar la máquina. Pasear y montar en bicicleta o nadar, siempre que no se haga a nivel de competición, son hábitos recomendables.
Y es que de momento no existe un tratamiento curativo y tan sólo se cuenta con la constancia de que la administración de sacarosa previa a la realización de ejercicio se asocia a una menor sensación de agotamiento. Cierto es que existen algunas sustancias a disposición de quienes gustan de la prescripción farmacológica, pero su eficacia no ha sido debidamente demostrada. “El futuro probablemente se beneficiará de las terapias génicas”
Actualmente, y tras fracasar en un primer proyecto en esta área, La Fe y el Hospital Materno-Infantil San Juan de Dios, de Barcelona, se encuentran inmersos en el segundo ensayo sobre terapia génica. En el centro de la diana se halla la distrofia muscular de Duchenne y el objetivo es el salto del exón 51 del gen de la distrofina administrando oligonucleótidos de síntesis. Los resultados todavía están por ver.
QUÉ ES
El síndrome de McArdle es una alteración metabólica que responde a un trastorno genético de caracter autosómico recesivo. La raíz del problema está en la la deficiencia de la enzima miofosforilasa, que impide la utilización de glucosa por el músculo.
CUADRO CLÍNICO
Los pacientes acusan de cansancio y debilidad muscular generalizada, asociada a rigidez, mialgias, pinchazos y espasmos que acompañan a la realización de ejercicio físico y se alivian o desaparecen estando en reposo. Según la Asociación Española de Enfermos de Glucogenosis, en la mitad de los casos se producen mioglobinuria e insuficiencia renal.
DETECCIÓN Y TRATAMIENTO
La biopsia demuestra la acumulación intracelular de glucógeno, aunque la prueba de la curva de ácido láctico puede servir para dar la voz de alarma y los análisis genéticos, por su parte, permitirán identificar la mutación concreta. A nivel mundial se han identificado dos, mientras que en España contamos con una tercera. Con respecto al tratamiento se recomienda evitar el exceso de ejercicio.
Fuente: www.diariomedico.com
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