Trusted Resources: Education
Scientific literature and patient education texts
Spinal Muscular Atrophy: From Rags to Riches
source: Neuromuscular Disorders: NMD
year: 2021
authors: Eugenio Mercuri
summary/abstract:The aim of this paper is to provide a short history of spinal muscular atrophy, from the first descriptions of the disease to the impact of the most recent therapeutical advances on the disease course. The paper provides an overview of how the field has progressed over the years after the availability of care recommendations and, more recently of the new therapies. The paper also highlights the new challenges related to the interpretation of the efficacy of the new therapies and how these are likely to affect several aspects such as the classification of spinal muscular atrophy. We will also discuss the need for further work to better define possible new phenotypes and new methods of assessments and how these should be reflected in the care recommendations. The results in presymptomatic patients will finally highlight the need for neonatal screening.
organization: Università Cattolica del Sacro Cuore, Italy; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, ItalyDOI: 10.1016/j.nmd.2021.08.009
read more
Related Content
-
Carrier Screening for Genetic ConditionsCarrier screening is a term used to desc...
-
New Components for Antisense Gene Therapy Show Promise in Treating Spinal Muscular AtrophySkoltech researchers and their colleague...
-
Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database AnalysisSpinal muscular atrophy (SMA) is a rare,...
-
Targeted NGS Seen as Best When Screening for SMA and Its CarriersTargeted next generation sequencing (NGS...
-
Improvement in Fine Manual Dexterity in Children With Spinal Muscular Atrophy Type 2 After Nusinersen Injection: A C...Although nusinersen has been demonstrate...
-
Spinal Muscular Atrophy With Respiratory Distress <br /> Type 1: A Novel Variant of IGHMBP2 GeneSpinal muscular atrophy (SMA) with respi...
-
Understanding Spinal Muscular Atrophy (SMA)https://www.youtube.com/watch?v=5mI_ZsWk...