Neuromuscular Disorders in Children and Adolescents

• Autore: Korinthenberg Rudolf
• Pubblicazione: Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022
• Descrizione fisica: 1 electronic resource (146 p.)
• Soggetto topico: Medicine; Neurology & clinical neurophysiology
• Soggetto non controllato: 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
• Persona (resp. second.): KorinthenbergRudolf
• Sommario/riassunto: 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.
• Titolo autorizzato: Neuromuscular Disorders in Children and Adolescents
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910566465903321
• Lo trovi qui: Univ. Federico II