Advances in Neuromuscular Diseases in Children and Adults - Focus on Neurological and Respiratory Issues

Dear Colleagues,

This Special Issue “Advances in Neuromuscular Diseases in Children and Adults- Focus on Neurological and Respiratory Issues”, will focus on the latest clinical advances in the field of neuromuscular diseases with the specific aim of treating together the aspects that most affect the patient's quality of life and life expectancy in many forms of neuromuscular disease (NMD), namely neurological ones and those related to the dysfunction of the respiratory muscles. The latter ones often requires the aid of noninvasive and invasive ventilation over the course of the disease and this particular aspect can be challenging for patients and physicians involved in their care.

NMD can be divided into hereditary and acquired neuromuscular diseases, and depending on the site of involvement, they can be divided into motor neuron, peripheral nerve, nerve-muscle junction and skeletal muscle diseases. It is a rare group of diseases that affect the physical health of children and adults resulting in sensory impairment and/or motor dysfunction in different areas and to varying degrees, and in severe cases, causing severe motor disability and/or loss of respiratory capacity.

In recent years, new breakthroughs in the molecular characterization and diagnosis of many NMD have been made and, for some NMDs such as SMA, Duchenne muscular dystrophies, glycogenosis type II, personalized molecular therapies or gene therapies are now available.

This new "therapeutic" era has given new impetus to research in the field of NMD and is driving to improve diagnostic accuracy and quality of clinical care for patients.

This Special Issue focuses on understanding the latest advances in neuromuscular diseases (early diagnosis, risk stratification, complications and treatment) and discussing the challenges of current research. Original manuscripts and reviews including but not limited to the following are highly welcome.

• Diagnosis and management
• Genetics and phenotype/genotype relation
• Pathogenic mechanisms
• Neurological and Respiratory clinical presentation and complications
• Neurological and Respiratory clinical care and treatment
• Advances in Noninvasive and Invasive mechanical ventilation
• New noninvasive ventilatory supports
• Telemedicine and monitoring of patients with neuromuscular diseases
• Gene and molecular therapy
• Motor and Respiratory Rehabilitation

Prof. Dr. Massimiliano Filosto
Dr. Paola Pierucci
Guest Editors

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