Daron A, Delstanche S, Dangouloff T, Servais L
Service de Pédiatrie, Centre de Références des Maladies Neuromusculaires, CHU Liège, Belgique.
Service de Neurologie, Centre de Référence des Maladies Neuromusculaires, CHU Liège, Belgique.
Rev Med Liege. 2019 Feb;74(2):82-85.
Spinal muscular atrophy (SMA) is an autosomal 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.
脊髓性肌萎缩症(SMA)是一种常染色体隐性神经肌肉疾病。婴儿型是婴儿因呼吸功能不全死亡的最常见遗传原因。该疾病由前角运动神经元过早死亡引起,导致进行性肌无力和肌肉萎缩。长期以来被认为无法治疗,在过去两年中该疾病的病理学有了重大变革。对这种可怕疾病的看法已彻底改变,从而改变了患者的治疗方式,并带来了新的挑战。