Ciencias de la vida y de la materia Enfermedades neuromusculares

Atrofia muscular espinal. Actualización de las estrategias terapéuticas

Descripción
Eduardo Tizzano Hospital de la Santa Creu i Sant Pau. Barcelona. Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects motor neurons (MNs). It is caused by mutations in the survival motor neuron gene 1 (SMN1) (1). The SMN2 gene, which is the highly homologous SMN1 copy that is present in all patients, is unable to prevent the disease. The clinical characteristics of SMA vary widely. The disorder can appear soon after birth, or not until adulthood.
"La Fundación Ramón Areces no se hace responsable de las opiniones, comentarios o manifestaciones realizados por las personas que participan en sus actividades."

Descripción

Eduardo Tizzano Hospital de la Santa Creu i Sant Pau. Barcelona. Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects motor neurons (MNs). It is caused by mutations in the survival motor neuron gene 1 (SMN1) (1). The SMN2 gene, which is the highly homologous SMN1 copy that is present in all patients, is unable to prevent the disease. The clinical characteristics of SMA vary widely. The disorder can appear soon after birth, or not until adulthood.

"La Fundación Ramón Areces no se hace responsable de las opiniones, comentarios o manifestaciones realizados por las personas que participan en sus actividades."