Neuromuscular Disorders in Children and Adolescents

• Daljnji autori: Korinthenberg, Rudolf (Urednik)
• Format: Elektronički Poglavlje knjige
• Jezik: engleski
• Izdano: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
• Teme: 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; n/a
• Online pristup: DOAB: download the publication; DOAB: description of the publication

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-g...