About this Research Topic
A few years ago, most inherited neuromuscular diseases were considered almost untreatable and therapeutic guidelines were limited to conservative measures, such as dietary, physical activity and lifestyle modifications. The past decade has seen a great improvement in the diagnosis of inherited neuromuscular diseases, due to the sophisticated combination of different diagnostic tools such as modern imaging techniques, histopathological studies, and advanced genetics. This has also led to an improvement in their management as a result of a better understanding of the various underlying pathophysiology’s and the development of innovative and disease-specific treatments. New drug technologies have led to the development of novel therapeutic approaches, providing clinical benefit for the patients, while they have also created many new challenges for the medical community.
The advent of new therapeutic tools has modified the natural course of many inherited neuromuscular diseases and has led to the development of new phenotypic characteristics, creating new needs to be addressed. On the other hand, some important issues that have already arisen are the lack of long-term experience concerning the safety and efficacy of new drugs and even in some cases the absence of clinical studies or robust scientific evidence for the efficacy of a specific agent in all forms of a certain disease. The aforementioned problems, combined with the ability of current genetic methods to allow diagnosis even in presymptomatic subjects, gave birth to new unanswered questions, such as the appropriate time to start a treatment, the criteria to stop it and the selection of the most appropriate tools for monitoring the therapeutic effect.
This Research Topic aims to covering current and future development in the therapeutic management of inherited neuromuscular diseases through a series of articles from experts in the field. We welcome submissions of Original Research and Reviews on the following themes:
• The experience of already applied treatments (for example in SMA and Pompe disease) and the still unmet needs;
• Recent advances in therapeutics of DMD and clinical trials in muscular dystrophies;
• Current therapeutic strategies in mitochondrial and other metabolic myopathies;
• The role of exercise in the management of neuromuscular diseases.
The advent of new therapeutic tools has modified the natural course of many inherited neuromuscular diseases and has led to the development of new phenotypic characteristics, creating new needs to be addressed. On the other hand, some important issues that have already arisen are the lack of long-term experience concerning the safety and efficacy of new drugs and even in some cases the absence of clinical studies or robust scientific evidence for the efficacy of a specific agent in all forms of a certain disease. The aforementioned problems, combined with the ability of current genetic methods to allow diagnosis even in presymptomatic subjects, gave birth to new unanswered questions, such as the appropriate time to start a treatment, the criteria to stop it and the selection of the most appropriate tools for monitoring the therapeutic effect.
This Research Topic aims to covering current and future development in the therapeutic management of inherited neuromuscular diseases through a series of articles from experts in the field. We welcome submissions of Original Research and Reviews on the following themes:
• The experience of already applied treatments (for example in SMA and Pompe disease) and the still unmet needs;
• Recent advances in therapeutics of DMD and clinical trials in muscular dystrophies;
• Current therapeutic strategies in mitochondrial and other metabolic myopathies;
• The role of exercise in the management of neuromuscular diseases.
Keywords: inherited neuromuscular disorders, current treatment
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