Infantile spinal muscular atrophy: Therapeutic (R)evolution
Daron A., Delstanche S., Dangouloff T., Servais L.
© 2019 Revue Medicale de Liege. All Rights Reserved. Summary: Spinal muscular atrophy (SMA) is an auto-somal recessive neuromuscular disorder. The infantile form is the most common genetic cause of infantile death due to respiratory insufficiency. The disorder is caused by the premature death of motor neurons of anterior horn, leading to progressive weakness and muscular atrophy. Longtime considered as untreatable, the pathology knew a real revolution during the last two years. Views on this terrible disease have completely changed, changing, therefore, the management of the patients and constituting new challenges.