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Spinal muscular atrophy --- Children

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Neuromuscular diseases in children --- Spinal muscular atrophy --- Child --- Infant --- Muscular Atrophy --- Spinal Cord Diseases

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Movement Disorders. --- Muscular Atrophy, Spinal. --- Neuromuscular Diseases. --- Motor neurons --- -Movement disorders --- Dyskinesia --- Dyskinesias --- Motor disorders --- Disabilities --- Nervous system --- Anterior horn cells --- Brain motor cells --- Motoneurons --- Brain --- Neurons --- Spinal cord --- 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 --- Adult Spinal Muscular Atrophy --- Adult-Onset Spinal Muscular Atrophy --- Amyotrophy, Neurogenic Scapuloperoneal, New England Type --- Distal Spinal Muscular Atrophy --- Hereditary Motor Neuronopathy --- Muscular Atrophy, Adult Spinal --- Myelopathic Muscular Atrophy --- Myelopathic Muscular Atrophy, Progressive --- Progressive Myelopathic Muscular Atrophy --- Progressive Proximal Myelopathic Muscular Atrophy --- Proximal Myelopathic Muscular Atrophy, Progressive --- Scapuloperoneal Spinal Muscular Atrophy --- Spinal Amyotrophy --- Spinal Muscular Atrophy, Distal --- Spinal Muscular Atrophy, Oculopharyngeal --- Spinal Muscular Atrophy, Scapuloperoneal --- Spinal Muscular Atrophy, Scapuloperoneal Form --- Bulbospinal Neuronopathy --- Oculopharyngeal Spinal Muscular Atrophy --- Progressive Muscular Atrophy --- Scapuloperoneal Form of Spinal Muscular Atrophy --- Spinal Muscular Atrophy --- Adult Onset Spinal Muscular Atrophy --- Amyotrophies, Spinal --- Amyotrophy, Spinal --- Atrophies, Progressive Muscular --- Atrophy, Myelopathic Muscular --- Atrophy, Progressive Muscular --- Atrophy, Spinal Muscular --- Bulbospinal Neuronopathies --- Hereditary Motor Neuronopathies --- Motor Neuronopathies, Hereditary --- Motor Neuronopathy, Hereditary --- Muscular Atrophies, Progressive --- Muscular Atrophy, Myelopathic --- Muscular Atrophy, Progressive --- Neuronopathies, Bulbospinal --- Neuronopathies, Hereditary Motor --- Neuronopathy, Bulbospinal --- Neuronopathy, Hereditary Motor --- Progressive Muscular Atrophies --- Spinal Amyotrophies --- Linguofacial Dyskinesia --- Movement Disorder Syndromes --- Oral Dyskinesia --- Oral-facial Dyskinesia --- Tardive Dyskinesia --- Tardive Dystonia --- Tardive Oral Dyskinesia --- Dyskinesia Syndromes --- Etat Marbre --- Lingual-Facial-Buccal Dyskinesia --- Orofacial Dyskinesia --- Status Marmoratus --- Dyskinesia Syndrome --- Dyskinesia, Lingual-Facial-Buccal --- Dyskinesia, Linguofacial --- Dyskinesia, Oral --- Dyskinesia, Oral-facial --- Dyskinesia, Orofacial --- Dyskinesia, Tardive --- Dyskinesias, Lingual-Facial-Buccal --- Dyskinesias, Linguofacial --- Dyskinesias, Oral --- Dyskinesias, Oral-facial --- Dyskinesias, Orofacial --- Dyskinesias, Tardive --- Dystonia, Tardive --- Dystonias, Tardive --- Lingual Facial Buccal Dyskinesia --- Lingual-Facial-Buccal Dyskinesias --- Linguofacial Dyskinesias --- Movement Disorder --- Movement Disorder Syndrome --- Oral Dyskinesias --- Oral facial Dyskinesia --- Oral-facial Dyskinesias --- Orofacial Dyskinesias --- Tardive Dyskinesias --- Tardive Dystonias --- Tardive Oral Dyskinesias --- Psychomotor Disorders --- Diseases --- Movement disorders --- Movement Disorders --- Muscular Atrophy, Spinal --- Neuromuscular Diseases

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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.

Medicine --- Neurology & clinical neurophysiology --- 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 --- 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

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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