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Significant scientific and therapeutic advances have been made in recent decades, particularly in hereditary but also in acquired neuromuscular diseases. As a result of our increasing etiological understanding, the classification of these diseases has changed from a clinical–descriptive and formal–genetic to a molecular–genetic and pathophysiological one. This has led to an intensification of research into the diagnosis and treatment of these diseases, resulting in the first effective gene-modifying treatments for DMD and SMA in recent years and, more recently, gene replacement therapy for the most severe form of SMA. In addition, great strides have been made in symptomatic and rehabilitative treatment, making it possible to improve the functioning and quality of life of those affected and their families. This Special Issue of Children contains a collection of 12 studies and reviews dealing with genetic and acquired peripheral nerve and muscle disorders.

Pompe disease --- GAA gene --- general population database --- carrier frequency --- genetic prevalence --- spinal muscular atrophy --- quality of life --- child neurology --- patient-reported outcomes --- neuromuscular --- carpal tunnel syndrome --- median nerve neuropathy --- electrodiagnostic studies --- neuromuscular ultrasound --- mucopolysaccharidosis --- neuropathy --- children --- adolescents --- Charcot–Marie–Tooth disease --- traumatic neuropathy --- inflammatory neuropathy --- metabolic neuropathy --- posterior spinal fusion --- kyphosis --- sagittal plane deformity --- signal recognition particle --- 3-hydroxy-3-methylglutaryl --- coenzyme A reductase --- juvenile myositis --- therapy --- clinical course --- chaperone-assisted autophagy --- clinical trials --- Duchenne muscular dystrophy --- public health surveillance --- distal arthrogryposis --- AMC --- ECEL1 --- contractures --- muscle MRI --- spinal muscular atrophy (SMA) --- nusinersen --- fine manual dexterity --- ultrasonographic elastography --- neuromuscular disease --- muscle --- brachial plexus neuritis --- hereditary sensory and motor neuropathy --- paralysis --- vaccination --- pediatrics --- n/a --- Charcot-Marie-Tooth disease

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This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.

LMNA --- Emery–Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype–phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- n/a --- Emery-Dreifuss muscular dystrophy --- genotype-phenotype