Neuromuscular disorders (NMDs) such as Amyotrophic lateral sclerosis, Spinal muscular atrophy, Duchenne muscular dystrophy, and many others are a group of rare diseases that mainly affect the muscles, peripheral nervous system, and neuromuscular junctions. A copious number of genetic mutations are associated with various types of NMDs. Skeletal muscle waste, reduction in muscle strength, muscle degeneration, neuropathy, spinal cord and neuromuscular junction abnormalities, sensory and motor impairment as well as lack of mobility together with other organ defects including heart and lungs are the main consequences of NMDs. The diagnosis of NMDs in children and adults is a challenging task because the majority of NMDs exhibit similar symptoms. The diagnostic approaches include genetic testing, biochemical evaluation, muscle and nerve biopsy, computed tomography, electromyography, and magnetic resonance imaging.
With regards to the treatment, a few NMDs have been treated with corticosteroids which exhibit unwanted side effects including weight gain, behavioral problems, and fragile bones. Currently, no effective medications exist to completely cure deleterious pathological conditions observed in NMDs. Therefore, therapeutic strategies aimed at curing these neuromuscular disorders efficiently are warranted now. The approaches such as gene editing, drug repurposing, RNA- based intervention, and gene replacement therapy have helped toward clinical trials and other drug developmental phases, and this could be useful in improving muscle diseases. Similarly, the exploration of novel animal models and biomarkers for NMDs may assist in understanding disease pathology, evaluating mutation-specific therapeutic interventions, and advancing them into patient use.
The main objective of this research topic is to present/report a thorough overview of diagnostic, and therapeutic interventions, animal models, biomarkers, and novel findings in NMDs utilizing omics techniques. This topic will incorporate the most up-to-date diagnostic approach to genetic screening methods for any NMDs. This special issue will accept both original research and review articles. In addition to different therapeutic approaches, the generation and characterization of novel animal models and the investigation of novel biomarkers for NMDs will be included.
We welcome both review and research articles that cover basic, translational, and clinical aspects of NMDs. The specific topics are given below:
- Novel diagnostic technique/genetic test elucidating NMDs
- Novel pathological disease mechanisms of NMDs
- Discovery of novel therapeutic interventions in NMDs and their translational suitability in humans
- Exploration of novel biomarkers and animal models for NMDs
- Repurposing-based drug screening for NMDs and appropriate study to facilitate the drug discovery approach in NMDs
- Review articles targeting the standardization of parameters related to the discovery of novel biomarkers and animal models
- Reports focusing on the medicinal chemistry and structure-activity relationships of FDA- approved small molecules that are useful in any NMDs.
Neuromuscular disorders (NMDs) such as Amyotrophic lateral sclerosis, Spinal muscular atrophy, Duchenne muscular dystrophy, and many others are a group of rare diseases that mainly affect the muscles, peripheral nervous system, and neuromuscular junctions. A copious number of genetic mutations are associated with various types of NMDs. Skeletal muscle waste, reduction in muscle strength, muscle degeneration, neuropathy, spinal cord and neuromuscular junction abnormalities, sensory and motor impairment as well as lack of mobility together with other organ defects including heart and lungs are the main consequences of NMDs. The diagnosis of NMDs in children and adults is a challenging task because the majority of NMDs exhibit similar symptoms. The diagnostic approaches include genetic testing, biochemical evaluation, muscle and nerve biopsy, computed tomography, electromyography, and magnetic resonance imaging.
With regards to the treatment, a few NMDs have been treated with corticosteroids which exhibit unwanted side effects including weight gain, behavioral problems, and fragile bones. Currently, no effective medications exist to completely cure deleterious pathological conditions observed in NMDs. Therefore, therapeutic strategies aimed at curing these neuromuscular disorders efficiently are warranted now. The approaches such as gene editing, drug repurposing, RNA- based intervention, and gene replacement therapy have helped toward clinical trials and other drug developmental phases, and this could be useful in improving muscle diseases. Similarly, the exploration of novel animal models and biomarkers for NMDs may assist in understanding disease pathology, evaluating mutation-specific therapeutic interventions, and advancing them into patient use.
The main objective of this research topic is to present/report a thorough overview of diagnostic, and therapeutic interventions, animal models, biomarkers, and novel findings in NMDs utilizing omics techniques. This topic will incorporate the most up-to-date diagnostic approach to genetic screening methods for any NMDs. This special issue will accept both original research and review articles. In addition to different therapeutic approaches, the generation and characterization of novel animal models and the investigation of novel biomarkers for NMDs will be included.
We welcome both review and research articles that cover basic, translational, and clinical aspects of NMDs. The specific topics are given below:
- Novel diagnostic technique/genetic test elucidating NMDs
- Novel pathological disease mechanisms of NMDs
- Discovery of novel therapeutic interventions in NMDs and their translational suitability in humans
- Exploration of novel biomarkers and animal models for NMDs
- Repurposing-based drug screening for NMDs and appropriate study to facilitate the drug discovery approach in NMDs
- Review articles targeting the standardization of parameters related to the discovery of novel biomarkers and animal models
- Reports focusing on the medicinal chemistry and structure-activity relationships of FDA- approved small molecules that are useful in any NMDs.
