LEADER 03908nam 2200961z- 450 001 9910566465903321 005 20231214133236.0 035 $a(CKB)5680000000037721 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/81062 035 $a(EXLCZ)995680000000037721 100 $a20202205d2022 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aNeuromuscular Disorders in Children and Adolescents 210 $aBasel$cMDPI - Multidisciplinary Digital Publishing Institute$d2022 215 $a1 electronic resource (146 p.) 311 $a3-0365-4070-9 311 $a3-0365-4069-5 330 $aSignificant 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. 606 $aMedicine$2bicssc 606 $aNeurology & clinical neurophysiology$2bicssc 610 $aPompe disease 610 $aGAA gene 610 $ageneral population database 610 $acarrier frequency 610 $agenetic prevalence 610 $aspinal muscular atrophy 610 $aquality of life 610 $achild neurology 610 $apatient-reported outcomes 610 $aneuromuscular 610 $acarpal tunnel syndrome 610 $amedian nerve neuropathy 610 $aelectrodiagnostic studies 610 $aneuromuscular ultrasound 610 $amucopolysaccharidosis 610 $aneuropathy 610 $achildren 610 $aadolescents 610 $aCharcot-Marie-Tooth disease 610 $atraumatic neuropathy 610 $ainflammatory neuropathy 610 $ametabolic neuropathy 610 $aposterior spinal fusion 610 $akyphosis 610 $asagittal plane deformity 610 $asignal recognition particle 610 $a3-hydroxy-3-methylglutaryl 610 $acoenzyme A reductase 610 $ajuvenile myositis 610 $atherapy 610 $aclinical course 610 $achaperone-assisted autophagy 610 $aclinical trials 610 $aDuchenne muscular dystrophy 610 $apublic health surveillance 610 $adistal arthrogryposis 610 $aAMC 610 $aECEL1 610 $acontractures 610 $amuscle MRI 610 $aspinal muscular atrophy (SMA) 610 $anusinersen 610 $afine manual dexterity 610 $aultrasonographic elastography 610 $aneuromuscular disease 610 $amuscle 610 $abrachial plexus neuritis 610 $ahereditary sensory and motor neuropathy 610 $aparalysis 610 $avaccination 610 $apediatrics 615 7$aMedicine 615 7$aNeurology & clinical neurophysiology 700 $aKorinthenberg$b Rudolf$4edt$01319552 702 $aKorinthenberg$b Rudolf$4oth 906 $aBOOK 912 $a9910566465903321 996 $aNeuromuscular Disorders in Children and Adolescents$93033957 997 $aUNINA