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Charcot-Marie-Tooth disease --- Charcot-Marie-Tooth, Maladies de

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Charcot-Marie-Tooth disease --- Charcot-Marie-Tooth, Maladies de

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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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Cerebellar ataxia --- Paralysis, Spastic --- Hereditary Sensory and Motor Neuropathy --- Ataxia --- Heredodegenerative Disorders, Nervous System --- Cerebellar Diseases --- Spinal Cord Diseases --- Neurodegenerative Diseases --- Polyneuropathies --- Central Nervous System Diseases --- Brain Diseases --- Genetic Diseases, Inborn --- Nervous System Malformations --- Dyskinesias --- Peripheral Nervous System Diseases --- Neurologic Manifestations --- Nervous System Diseases --- Congenital Abnormalities --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Signs and Symptoms --- Neuromuscular Diseases --- Pathological Conditions, Signs and Symptoms --- Cerebellar Ataxia --- Spastic Paraplegia, Hereditary --- Spinocerebellar Degenerations --- Medicine --- Health & Biological Sciences --- Neurology --- Early Onset Cerebellar Ataxia --- Familial Spinocerebellar Degenerations --- Garland-Moorhouse Syndrome --- Hereditary Oligophrenic Cerebello-Lental Degeneration --- Hereditary Spinocerebellar Degenerations --- Inherited Spinocerebellar Degenerations --- Late Onset Cerebellar Ataxia --- Marie's Cerebellar Ataxia --- Marinesco-Garland Syndrome --- Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism --- Marinesco-Sjogren Syndrome-Myopathy --- Marinesco-Sjogren-Garland Syndrome --- Marinesco-Sjögren Syndrome --- Spino Cerebellar Degenerations --- Spino-Cerebellar Degenerations --- Spinocerebellar Diseases --- Ataxias, Hereditary --- Cerebellar Ataxia, Early Onset --- Cerebellar Ataxia, Late Onset --- Cerebellar Degenerations, Primary --- Corticostriatal-Spinal Degeneration --- Marie Cerebellar Ataxia --- Marinesco-Sjogren Syndrome --- Spinocerebellar Degeneration --- Ataxia, Hereditary --- Cerebellar Ataxia, Marie --- Cerebellar Ataxia, Marie's --- Cerebellar Degeneration, Primary --- Corticostriatal Spinal Degeneration --- Corticostriatal-Spinal Degenerations --- Degeneration, Corticostriatal-Spinal --- Degeneration, Familial Spinocerebellar --- Degeneration, Hereditary Spinocerebellar --- Degeneration, Inherited Spinocerebellar --- Degeneration, Primary Cerebellar --- Degeneration, Spino Cerebellar --- Degeneration, Spino-Cerebellar --- Degeneration, Spinocerebellar --- Degenerations, Corticostriatal-Spinal --- Degenerations, Familial Spinocerebellar --- Degenerations, Hereditary Spinocerebellar --- Degenerations, Inherited Spinocerebellar --- Degenerations, Primary Cerebellar --- Degenerations, Spino Cerebellar --- Degenerations, Spinocerebellar --- Familial Spinocerebellar Degeneration --- Garland Moorhouse Syndrome --- Hereditary Ataxia --- Hereditary Ataxias --- Hereditary Oligophrenic Cerebello Lental Degeneration --- Hereditary Spinocerebellar Degeneration --- Hypogonadism, Marinesco-Sjogren Syndrome-Hypergonadotrophic --- Inherited Spinocerebellar Degeneration --- Marinesco Garland Syndrome --- Marinesco Sjogren Garland Syndrome --- Marinesco Sjogren Syndrome --- Marinesco Sjogren Syndrome Hypergonadotrophic Hypogonadism --- Marinesco Sjogren Syndrome Myopathy --- Marinesco Sjögren Syndrome --- Primary Cerebellar Degeneration --- Primary Cerebellar Degenerations --- Spino Cerebellar Degeneration --- Spino-Cerebellar Degeneration --- Spinocerebellar Degeneration, Familial --- Spinocerebellar Degeneration, Hereditary --- Spinocerebellar Degeneration, Inherited --- Spinocerebellar Degenerations, Familial --- Spinocerebellar Degenerations, Hereditary --- Spinocerebellar Degenerations, Inherited --- Spinocerebellar Disease --- Syndrome, Garland-Moorhouse --- Syndrome, Marinesco-Garland --- Syndrome, Marinesco-Sjogren --- Syndrome, Marinesco-Sjogren-Garland --- Syndrome, Marinesco-Sjögren --- Syndrome-Hypergonadotrophic Hypogonadism, Marinesco-Sjogren --- Syndrome-Myopathy, Marinesco-Sjogren --- Autosomal Dominant Hereditary Spastic Paraplegia --- Autosomal Dominant Spastic Paraplegia Hereditary --- Autosomal Recessive Hereditary Spastic Paraplegia --- Autosomal Recessive Spastic Paraplegia, Hereditary --- CMT with Pyramidal Features --- Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant --- HMSN 5 --- HMSN Type V --- HMSN V --- HMSN V (Hereditary Motor and Sensory Neuropathy Type V) --- Hereditary Autosomal Dominant Spastic Paraplegia --- Hereditary Autosomal Recessive Spastic Paraplegia --- Hereditary Motor And Sensory Neuropathy V --- Hereditary Motor and Sensory Neuropathy 5 --- Hereditary Motor-Sensory Neuropathy with Pyramidal Signs --- Hereditary Spastic Paraplegia, Autosomal Recessive --- Hereditary X-Linked Recessive Spastic Paraplegia --- Hereditary, Spastic Paraplegia, Autosomal Dominant --- Hereditary, Spastic Paraplegia, X-Linked Recessive --- Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia --- Paraplegia, Spastic, Hereditary --- Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant --- Spastic Paraplegia 2 --- Spastic Paraplegia Type 2 --- Spastic Paraplegia, Autosomal Dominant, Hereditary --- Spastic Paraplegia, Autosomal Recessive, Hereditary --- Spastic Paraplegia, Hereditary, Autosomal Dominant --- Spastic Paraplegia, Hereditary, Autosomal Recessive --- Spastic Paraplegia, Hereditary, X-Linked Recessive --- Spastic Paraplegia, X-Linked Recessive, Hereditary --- Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy --- Type V Hereditary Motor and Sensory Neuropathy --- X Linked Recessive Hereditary Spastic Paraplegia --- X-linked Recessive Hereditary Spastic Paraplegia --- Hereditary Spastic Paraplegia --- X-Linked, Spastic Paraplegia, Hereditary --- Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant --- Hereditary Motor Sensory Neuropathy with Pyramidal Signs --- Hereditary Spastic Paraplegias --- Hereditary X Linked Recessive Spastic Paraplegia --- Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia --- Paraplegia, Hereditary Spastic --- Paraplegias, Hereditary Spastic --- Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy --- Spastic Paraplegias, Hereditary --- Type V, HMSN --- Cerebellar Hemiataxia --- Cerebellar Incoordination --- Hypermetria --- Adiadochokinesis --- Ataxia, Cerebellar --- Cerebellar Dysmetria --- Dysmetria --- Adiadochokineses --- Ataxias, Cerebellar --- Cerebellar Ataxias --- Cerebellar Dysmetrias --- Cerebellar Hemiataxias --- Cerebellar Incoordinations --- Dysmetria, Cerebellar --- Dysmetrias --- Dysmetrias, Cerebellar --- Hemiataxia, Cerebellar --- Hemiataxias, Cerebellar --- Hypermetrias --- Incoordination, Cerebellar --- Incoordinations, Cerebellar --- Symptoms and General Pathology --- Cramp-Fasciculation Syndrome --- Fasciculation-Cramp Syndrome, Benign --- Foley-Denny-Brown Syndrome --- Oppenheim's Disease --- Amyotonia Congenita --- Oppenheim Disease --- Benign Fasciculation-Cramp Syndrome --- Benign Fasciculation-Cramp Syndromes --- Cramp Fasciculation Syndrome --- Cramp-Fasciculation Syndromes --- Fasciculation Cramp Syndrome, Benign --- Fasciculation-Cramp Syndromes, Benign --- Foley Denny Brown Syndrome --- Neuromuscular Disease --- Oppenheims Disease --- Syndrome, Cramp-Fasciculation --- Syndrome, Foley-Denny-Brown --- Syndromes, Cramp-Fasciculation --- Symptoms and Signs --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- Abnormalities, Congenital --- Defects, Congenital --- Birth Defects --- Congenital Defects --- Deformities --- Abnormality, Congenital --- Birth Defect --- Congenital Abnormality --- Congenital Defect --- Defect, Birth --- Defect, Congenital --- Defects, Birth --- Deformity --- Fetal Diseases --- Infant, Newborn, Diseases --- Teratogenesis --- Nervous System Disorders --- Neurological Disorders --- Neurologic Disorders --- Disease, Nervous System --- Diseases, Nervous System --- Disorder, Nervous System --- Disorder, Neurologic --- Disorder, Neurological --- Disorders, Nervous System --- Disorders, Neurologic --- Disorders, Neurological --- Nervous System Disease --- Nervous System Disorder --- Neurologic Disorder --- Neurological Disorder --- Focal Neurologic Deficits --- Manifestations, Neurologic --- Manifestations, Neurological --- Neurologic Dysfunction --- Neurologic Findings --- Neurologic Manifestation --- Neurologic Signs --- Neurologic Symptoms --- Neurological Manifestations --- Neurologic Deficits --- Neurologic Signs and Symptoms --- Deficit, Focal Neurologic --- Deficit, Neurologic --- Deficits, Focal Neurologic --- Deficits, Neurologic --- Dysfunction, Neurologic --- Dysfunctions, Neurologic --- Finding, Neurologic --- Findings, Neurologic --- Focal Neurologic Deficit --- Manifestation, Neurologic --- Manifestation, Neurological --- Neurologic Deficit --- Neurologic Deficit, Focal --- Neurologic Deficits, Focal --- Neurologic Dysfunctions --- Neurologic Finding --- Neurologic Sign --- Neurologic Symptom --- Neurological Manifestation --- Sign, Neurologic --- Signs, Neurologic --- Symptom, Neurologic --- Symptoms, Neurologic --- Nervous System --- PNS (Peripheral Nervous System) Diseases --- PNS Diseases --- Peripheral Nervous System Disease --- Peripheral Nervous System Disorders --- Peripheral Nerve Diseases --- Peripheral Neuropathies --- Nerve Disease, Peripheral --- Nerve Diseases, Peripheral --- Neuropathy, Peripheral --- PNS Disease --- Peripheral Nerve Disease --- Peripheral Neuropathy --- Abnormal Movements --- Hemiballism --- Linguofacial Dyskinesia --- Oral Dyskinesia --- Oral-Facial Dyskinesia --- Tardive Oral Dyskinesia --- Asterixis --- Ballismus --- Hemiballismus --- Involuntary Movements --- Lingual-Facial-Buccal Dyskinesia --- Orofacial Dyskinesia --- Abnormal Movement --- Dyskinesia --- Dyskinesia, Lingual-Facial-Buccal --- Dyskinesia, Linguofacial --- Dyskinesia, Oral --- Dyskinesia, Oral-Facial --- Dyskinesia, Orofacial --- Dyskinesias, Lingual-Facial-Buccal --- Dyskinesias, Linguofacial --- Dyskinesias, Oral --- Dyskinesias, Oral-Facial --- Dyskinesias, Orofacial --- Involuntary Movement --- Lingual Facial Buccal Dyskinesia --- Lingual-Facial-Buccal Dyskinesias --- Linguofacial Dyskinesias --- Movement, Abnormal --- Movement, Involuntary --- Movements, Abnormal --- Movements, Involuntary --- Oral Dyskinesias --- Oral Facial Dyskinesia --- Oral-Facial Dyskinesias --- Orofacial Dyskinesias --- Tardive Oral Dyskinesias --- Movement Disorders --- Abnormalities, Congenital, Nervous System --- Abnormalities, Nervous System --- Anomalies, Nervous System --- Congenital Abnormalities, Nervous System --- Congenital Anomalies, Nervous System --- Congenital Malformations, Nervous System --- Cranioschisis --- Malformations, Nervous System, Congenital --- Nervous System Anomalies --- Nervous System Congenital Abnormalities --- Nervous System Congenital Malformations --- Nervous System Malformations, Congenital --- Nervous System Abnormalities --- Abnormality, Nervous System --- Anomaly, Nervous System --- Cranioschises --- Malformation, Nervous System --- Malformations, Nervous System --- Nervous System Abnormality --- Nervous System Anomaly --- Nervous System Malformation --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetics, Medical --- Brain Disorders --- CNS Disorders, Intracranial --- Central Nervous System Disorders, Intracranial --- Central Nervous System Intracranial Disorders --- Encephalon Diseases --- Encephalopathy --- Intracranial CNS Disorders --- Intracranial Central Nervous System Disorders --- Brain Disease --- Brain Disorder --- CNS Disorder, Intracranial --- Encephalon Disease --- Encephalopathies --- Intracranial CNS Disorder --- CNS Diseases --- Central Nervous System Disorders --- CNS Disease --- Polyneuropathy, Critical Illness --- Polyneuropathy, Familial --- Polyneuropathy, Inherited --- Polyneuropathy, Motor --- Polyneuropathy, Acquired --- Acquired Polyneuropathies --- Acquired Polyneuropathy --- Critical Illness Polyneuropathies --- Critical Illness Polyneuropathy --- Familial Polyneuropathies --- Familial Polyneuropathy --- Inherited Polyneuropathies --- Inherited Polyneuropathy --- Motor Polyneuropathies --- Motor Polyneuropathy --- Polyneuropathies, Acquired --- Polyneuropathies, Critical Illness --- Polyneuropathies, Familial --- Polyneuropathies, Inherited --- Polyneuropathies, Motor --- Polyneuropathy --- Degenerative Diseases, Central Nervous System --- Degenerative Diseases, Neurologic --- Degenerative Diseases, Spinal Cord --- Degenerative Neurologic Diseases --- Degenerative Neurologic Disorders --- Nervous System Degenerative Diseases --- Neurodegenerative Disorders --- Neurologic Degenerative Conditions --- Neurologic Degenerative Diseases --- Neurologic Diseases, Degenerative --- Degenerative Diseases, Nervous System --- Degenerative Condition, Neurologic --- Degenerative Conditions, Neurologic --- Degenerative Neurologic Disease --- Degenerative Neurologic Disorder --- Neurodegenerative Disease --- Neurodegenerative Disorder --- Neurologic Degenerative Condition --- Neurologic Degenerative Disease --- Neurologic Disease, Degenerative --- Neurologic Disorder, Degenerative --- Neurologic Disorders, Degenerative --- Spinal Cord Disorders --- Myelopathy --- Myelopathies --- Spinal Cord Disease --- Spinal Cord Disorder --- Cerebellar Disorders --- Cerebellar Syndromes --- Cerebellar Dysfunction --- Cerebellum Diseases --- Cerebellar Disease --- Cerebellar Disorder --- Cerebellar Dysfunctions --- Cerebellar Syndrome --- Cerebellum Disease --- Disease, Cerebellar --- Disease, Cerebellum --- Disorder, Cerebellar --- Dysfunction, Cerebellar --- Syndrome, Cerebellar --- Degenerative Hereditary Diseases, Nervous System --- Hereditary Neurodegenerative Diseases --- Hereditary-Degenerative Disorders, Nervous System --- Nervous System Degenerative Hereditary Diseases --- Nervous System Hereditary Degenerative Diseases --- Degenerative Disease, Nervous System, Hereditary --- Degenerative Hereditary Disorders, Nervous System --- Hereditary Diseases, Neurodegenerative --- Nervous System Diseases, Degenerative, Hereditary --- Neurodegenerative Diseases, Hereditary --- Disease, Hereditary Neurodegenerative --- Disease, Neurodegenerative Hereditary --- Diseases, Hereditary Neurodegenerative --- Diseases, Neurodegenerative Hereditary --- Hereditary Degenerative Disorders, Nervous System --- Hereditary Disease, Neurodegenerative --- Hereditary Neurodegenerative Disease --- Neurodegenerative Disease, Hereditary --- Neurodegenerative Hereditary Disease --- Neurodegenerative Hereditary Diseases --- Ataxia, Appendicular --- Ataxia, Limb --- Ataxia, Motor --- Ataxia, Sensory --- Ataxia, Truncal --- Ataxy --- Dyscoordination --- Lack of Coordination --- Tremor, Rubral --- Coordination Impairment --- Dyssynergia --- Incoordination --- Appendicular Ataxia --- Appendicular Ataxias --- Ataxias --- Ataxias, Appendicular --- Ataxias, Limb --- Ataxias, Motor --- Ataxias, Sensory --- Ataxias, Truncal --- Coordination Impairments --- Coordination Lack --- Impairment, Coordination --- Impairments, Coordination --- Incoordinations --- Limb Ataxia --- Limb Ataxias --- Motor Ataxia --- Motor Ataxias --- Rubral Tremor --- Rubral Tremors --- Sensory Ataxia --- Sensory Ataxias --- Tremors, Rubral --- Truncal Ataxia --- Truncal Ataxias --- CMT4f --- Charcot-Marie-Tooth Disease, Demyelinating, Type 4f --- Charcot-Marie-Tooth Disease, Type 3 --- Dejerine-Sottas Neuropathy --- Dejerine-Sottas Syndrome --- HMSN3 --- Herditary Sensory and Motor Neuropathy --- Hereditary Motor and Sensory Neuropathy --- Hereditary Motor and Sensory Neuropathy 3 --- Hereditary Motor and Sensory Neuropathy Type III --- Hypertrophic Neuropathy of Dejerine-Sottas --- Dejerine-Sottas Disease --- HMSN --- HMSN Type III --- HMSN Type VII --- Hereditary Motor and Sensory Neuropathies --- Hereditary, Type III, Motor and Sensory Neuropathy --- Hereditary, Type VII, Motor and Sensory Neuropathy --- Neuropathies, Hereditary Motor and Sensory --- Charcot Marie Tooth Disease, Type 3 --- Dejerine Sottas Disease --- Dejerine Sottas Neuropathy --- Dejerine Sottas Syndrome --- Dejerine-Sottas Hypertrophic Neuropathy --- Disease, Dejerine-Sottas --- HMSN Type IIIs --- HMSN Type VIIs --- Hypertrophic Neuropathy of Dejerine Sottas --- Neuropathy, Dejerine-Sottas --- Syndrome, Dejerine-Sottas --- Type VII, HMSN --- Spastic paralysis --- Neuromuscular diseases --- Spasticity --- Cerebellum --- abnormalities --- Fetal Anomalies --- Fetal Malformations --- Anomaly, Fetal --- Fetal Anomaly --- Fetal Malformation --- Malformation, Fetal --- Central Nervous System Disease --- Central Nervous System Disorder