| Literature DB >> 30793560 |
A Daron1, S Delstanche2, T Dangouloff1, L Servais1,3.
Abstract
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.Entities:
Keywords: Newborn screening; Treatments ; Spinal muscular atrophy
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Year: 2019 PMID: 30793560
Source DB: PubMed Journal: Rev Med Liege ISSN: 0370-629X