Trends in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neuromuscular and Movement Disorders".
Deadline for manuscript submissions: 15 July 2025 | Viewed by 61
Special Issue Editor
Special Issue Information
Dear Colleagues,
Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) are emblematic examples of the most extensively studied neuromuscular diseases in recent decades. The advent of antisense oligonucleotide (ASO)-based therapies designed to specifically target and modify RNA transcripts, as well as recently approved gene therapies, bring new challenges to the diagnosis and care of patients in both diseases.
The aim of this Special Issue is to share future avenues of research in the clinical diagnostic and therapeutic aspects as well as in the more basic mechanisms of SMA and DMD.
In SMA, several treatments have shown efficacy in stabilizing and even improving motor function, However, optimizing outcome in terms of age, respiratory status, severity, SMN2 copy number, and other variables remains to be established. Emerging phenotypes as well as combination therapies and outcome measures to assess efficacy, including biomarkers, should be assessed. In the meantime, patient care measures must continue to be discussed and improved.
In DMD, the panorama of new drugs in addition to standard corticosteroid therapy has shown a remarkable expansion. However, the true place of these new drugs in patient care and final outcomes needs to be clarified. We must understand phenotypic variability as well as determine the need and best timing of therapeutic care interventions such as bone care or hormone supplementation (to mention just a few examples). Given the new landscape, it is critical to develop physical assessment methods sensitive enough to detect clinically meaningful changes.
Papers dealing with some of the above-mentioned topics, other topics related to diagnostic, clinical, or therapeutic aspects of SMA or DMD, and basic research in this field are welcome.
Prof. Dr. Alberto Dubrovsky
Guest Editor
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Keywords
- spinal muscular atrophy (SMA)
- Duchenne muscular dystrophy (DMD)
- neuromuscular disorders
- therapies
- new drugs
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