Integrated diagnostic approach of pediatric neuromuscular disorders

다국어 초록 (Multilingual Abstract)

Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disor-ders, which makes conἀrmative diagnosis difἀcult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modiἀable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new ge-netic drug options and genetic counseling.

참고문헌 (Reference)

1 설연아, "늘어지는 영아 증후군의 임상양상 분석 및 진단적 접근(2008 -2012)" 대한소아신경학회 22 (22): 143-148, 2014

2 Chae JH, "Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders" 32 : 208-216, 2015

3 Finkel RS, "Treatment of infantile-onset spinal muscular atrophy with nusinersen:a phase 2, open-label, dose-escalation study" 388 : 3017-3026, 2016

4 Dowling JJ, "Treating pediatric neuromuscular disorders: the future is now" 176 : 804-841, 2018

5 Talbot K, "The clinical landscape for SMA in a new therapeutic era" 24 : 529-533, 2017

6 Sumner CJ, "Spinal muscular atrophy: disease mechanisms and therapy" Academic Press 2016

7 Al-Ghamdi F, "Spectrum of neuromuscular disorders with hyperCKemia from a tertiary care pediatric neuromuscular center" 33 : 389-396, 2018

8 Voit T, "Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomized, placebo-controlled phase 2 study" 13 : 987-996, 2014

9 Chiriboga CA, "Results from a phase 1 study of nusinersen (ISISSMN(Rx)) in children with spinal muscular atrophy" 86 : 890-897, 2016

10 Karakis I, "Referral and diagnostic trends in pediatric electromyography in the molecular era" 50 : 244-249, 2014

11 Mercuri E, "Nusinersen versus sham control in later-onset spinal muscular atropphy" 378 : 625-635, 2018

12 Ravenscroft G, "New era in genetics of early-onset muscle disease: breakthroughs and challenges" 64 : 160-170, 2017

13 Darras BT, "Neuromuscular disorders of infancy, childhood, and adeloscence: a clinician’s approach" Academic Press 2014

14 Ho G, "Myotonic dystrophy type 1: clinical manifestations in children and adolescents" 2018

15 Dubowitz V, "Muscle disorders in childhood" Bailliere Tindall 1995

16 Goebel HH, "Muscle disease: pathology and genetics" Wiley-Blackwell 2013

17 Dubowitz V, "Muscle biopsy: a practical approach" Saunders Elsevier 2013

18 McDonald CM, "Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: long-term natural history with and without glucocorticoids" 28 : 897-909, 2018

19 Mendell JR, "Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy" 79 : 257-271, 2016

20 Goemans NM, "Long-term efficacy, safety, and pharmacokinetics of drisapersen in Duchenne muscular dystrophy: results from an openlabel extension study" 11 : e0161955-, 2016

21 McDonald CM, "Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study" 391 : 451-461, 2018

22 Eun BL, "Introduction of national health screening program for infant and children" 15 : 142-147, 2007

23 Lim BC, "Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea" 20 : 524-530, 2010

24 Piña-Garza JE, "Fenichel’s clinical pediatric neurology:a signs and symptoms approach" Elsevier Saunders 2013

25 Charleston JS, "Eteplirsen treatment for Duchenne muscular dystrophy: exon skipping and dystrophin production" 90 : e2146-e2154, 2018

26 Preston DC, "Electromyography and neuromuscular disorders:clinical-electrophysiologic correlations" Sauders 2012

27 Rabie M, "Electromyography (EMG) accuracy compared to muscle biopsy in childhood" 22 : 803-808, 2007

28 Emery AE, "Duchenne muscular dystrophy" Oxford University Press 2015

29 Kley RA, "Differential diagnosis of hyper-CKemia" 2 : E72-E83, 2018

30 Richer LP, "Diagnostic profile of neonatal hypotonia:an 11-year study" 25 : 32-37, 2001

31 Bönnemann CG, "Diagnostic approach to the congenital muscular dystrophies" 24 : 289-311, 2014

32 Darras BT, "Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis" 23 : 289-300, 2000

33 Paro-Panjan D, "Congenital hypotonia: is there an algorithm" 19 : 439-442, 2004

34 North KN, "Clinical approach to the diagnosis of congenital myopathies" 18 : 216-220, 2011

35 Zvaritch E, "Ca2+ dysregulation in Ryr1 (I4895T/wt) mice causes congenitalmyopathy with progressive formation of minicores, cores, and nemaline rods" 106 : 21813-21818, 2009

36 McDonald CM, "Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomized, doubleblind, placebo-controlled, phase 3 trial" 390 : 1489-1498, 2017

37 North KN, "Approach to the diagnosis of congenital myopathies" 24 : 97-116, 2014

38 Böhm J, "An integrated diagnosis strategy for congenital myopathies" 8 : e67527-, 2013