Yenidoğanın Nöromusküler Hastalıkları
Özet
Yenidoğanın nöromüsküler hastalıkları, kas zayıflığı ve hipotoni ile karakterize olup motor ünitedeki patolojik lokalizasyona göre sınıflandırılmaktadır. Tanı süreci, klinik bulguların santral veya periferik hipotonisite ayrımına dayanmakta; kapsamlı bir aile öyküsü, fiziksel muayene ve genetik testler ile yürütülmektedir. Yenidoğan döneminde primer kas hastalıkları, spinal müsküler atrofiler ve diğer motor nöron bozuklukları geniş bir klinik spektrum oluşturmaktadır.
Neuromuscular disorders in neonates are characterized by muscle weakness and hypotonia, and are classified based on the anatomical localization of the pathology within the motor unit. The diagnostic process relies on differentiating between central and peripheral hypotonia, supported by a thorough family history, physical examination, and genetic testing. Primary muscle diseases, spinal muscular atrophies, and other motor neuron disorders constitute a broad clinical spectrum in the neonatal period.
Referanslar
Emery AEH. Population frequencies of inherited neuromuscular diseases—A world survey. Neuromuscular Disorders;1991.1(1), 19–29.
Deenen JCW, van Doorn PA, Faber CG, et al. The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands. Neuromuscular Disorders. 2016: 26(7), 447–452.
Swaiman KF, Ashwal S, Ferriero DM, et al. Swaiman’s Pediatric Neurology, Principles and Practice. 6th ed. Philadelphia: Elsevier. 2018: chapter 138, p. 2352.
Omokhodion SI, Losekoot TG, Jaiyesimi F. Serum creatine kinase and creatine kinase-MB isoenzyme activities in perinatally asphyxiated newborns. Eur Heart J; 1991 Sep.12(9):980-4.
Reddy S, Dutta S, Narang A. Evaluation of lactate dehydrogenase, creatine kinase and hepatic enzymes for the retrospective diagnosis of perinatal asphyxia among sick neonates. Indian Pediatr; 2008 Feb. 45(2):144-7.
Pitt M, Kang PB. Electromyography in Pediatrics. Neuromuscular Disorders of Infancy, Childhood, and Adolescence;2015. 32–45.
Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscular Disorders;2004. 14 (10), 635–649.
Mercuri E, Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Annals of Neurology;2012.72(1), 9–17.
Bönnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disorders;2014. 24(4), 289–311.
Endo T. Glycobiology of -dystroglycan and muscular dystrophy. Journal of Biochemistry; 2014. 157(1), 1–12.
Muntoni F, Brockington M, Godfrey C, et al. Muscular dystrophies due to defective glycosylation of dystroglycan, Acta Myol;2007 Dec. 26(3): 129–135.
Reed UC. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arquivos de Neuro-Psiquiatria;2009. 67 (1), 144–168.
Mostacciuolo ML, Miorin M. Martinello F, et al. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Human Genetics;1996. 97(3), 277–279.
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, et al. Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome. The American Journal of Human Genetics;2002. 71(5), 1033–1043.
Gençpınar P, Uyanık G, Haspolat Ş. Clinical and Molecular Manifestations of Congenital Muscular Alpha-Dystroglycanopathy due to an ISPD Gene Mutation;2019. Neurophysiology, 51(5), 373–378.
De la Chapelle A, Wright FA. Linkage disequilibrium mapping in isolated populations: The example of Finland revisited. Proceedings of the National Academy of Sciences;1998. 95(21), 12416–12423.
Yoshida A, Kobayashi K, Manya H, et al. Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1. Developmental Cell; 2001. Vol. 1, 717–724.
Toda T, Kobayashi K, Kondo-Iida E, et al. The Fukuyama congenital muscular dystrophy story. Neuromuscular Disorders;2010. 10(3), 153–159.
Saito K, Adam MP, Ardinger HH, et al. Fukuyama Congenital Muscular Dystrophy. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2006 Jan 26 [updated 2019 Jul 3].
Kato Z, Morimoto M, Orii KE, et al. Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy. Pediatric Radiology;2010. 40(S1), 127–129.
Yurchenco PD, McKee KK, Reinhard JR, et al. Laminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies. Matrix Biology. doi:10.1016/j.matbio.2017.11.009
Oliveira J, Freixo JP, Santos M, et al. LAMA2 Muscular Dystrophy. GeneReviews [Internet]; 2012 Jun 7 [updated 2020 Sep 17].
Geranmayeh F, Clement E, Feng LH, et al. Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscular Disorders; 2010. 20(4), 241–250.
Raffaele di Barletta M, Ricci E, Galluzzi G, et al. Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy. The American Journal of Human Genetics;2000. 66(4), 1407–1412.
Quijano-Roy S, Mbieleu B, Bönnemann CG, et al. De novoLMNAmutations cause a new form of congenital muscular dystrophy. Annals of Neurology;2008. 64(2), 177–186.
Foley AR, Mohassel P, Donkervoort S, et al. Collagen VI-Related Dystrophies. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022.
2004 Jun 25 [updated 2021 Mar 11].
Volpe JJ. Muscle Involvement and Restricted Disorders. In: Neurology of the newborn, 6th edn. WB Saunders, Philadelphia;2018. pp 922-932.
Wallgren-Pettersson C, Bushby K, Mellies U, et al. 117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II), Naarden, The Netherlands. Neuromuscular Disorders; 4–6 April 2003. 14(1), 56–69.
Schara U, Schoser BGH. Myotonic Dystrophies Type 1 and 2: A Summary on Current Aspects. Seminars in Pediatric Neurology;2006. 13(2), 71–79.
Dounıol M, Jacquette A, Cohen D, et al. Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Developmental Medicine & Child Neurology;2012. 54(10), 905–911.
Angeard N, Gargiulo M, Jacquette A, et al. Cognitive profile in childhood myotonic dystrophy type 1: Is there a global impairment? Neuromuscular Disorders;2007. 17(6), 451–458.
Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. The Lancet Neurology;2012. 11(10), 891–905.
Kuo HC, Hsiao KM, Chen CJ, et al. Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy. Brain and Development;2005. 27(4), 291–296.
Ho G. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World Journal of Clinical Pediatrics;2015. 4(4), 66.
Smith CA, Gutmann L. Myotonic Dystrophy Type 1 Management and Therapeutics. Current Treatment Options in Neurology;2016. 18(12).
Amburgey K, McNamara N, Bennett LR, et al. Prevalence of congenital myopathies in a representative pediatric united states population. Annals of Neurology. 2011. 70(4), 662–665.
Sparrow JC, Nowak KJ, Durling HJ, et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscular Disorders. 2003. 13(7-8), 519–531.
Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet Journal of Rare Diseases;2008. 3(1), 26.
Markowitz JA, Singh P, Darras BT. Spinal Muscular Atrophy: A Clinical and Research Update. Pediatric Neurology;2012. 46(1), 1–12.
Oskoui M, Kaufmann P. Spinal muscular atrophy. Neurotherapeutics. 2008. 5(4), 499–506.
Markowitz JA, Singh P, Darras BT. Spinal Muscular Atrophy: A Clinical and Research Update. Pediatric Neurology;2012. 46(1), 1–12.
Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurologic Clinics;2015. 33(4), 831–846.
Feldkötter M, Schwarzer V, Wirth R, et al. Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy. The American Journal of Human Genetics;2002. 70(2), 358–368.
Mercuri E, Darras BT, Chiriboga CA, Day, et al. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. New England Journal of Medicine;2018. 378(7), 625–635.
Chiriboga CA, Swoboda KJ, Darras BT, et al. Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy. Neurology;2016. 86(10), 890–897.
Schuster DJ, Dykstra JA, Riedl MS, et al. Biodistribution of adeno-associated virus serotype 9 (AAV9) vector after intrathecal and intravenous delivery in mouse. Frontiers in Neuroanatomy;2014. 8.
Al‐Zaidy S, Pickard AS, Kotha K, et al. Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy. Pediatric Pulmonology;2018.
Sivaramakrishnan M, McCarthy KD, Campagne S, et al. Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers. Nature Communications;2017. 8(1).
Palacino J, Swalley SE, Song C, et al. SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice. Nature Chemical Biology;2015. 11(7), 511–517.
Swaiman KF, Ashwal S, Ferriero DM, et al. Swaiman’s Pediatric Neurology, Principles and Practice. 6th ed. Philadelphia: Elsevier;2018: chapter 140, 2385-2387.
Volpe JJ. Levels Above Lower Motor Neuron to Neuromuscular Junction. In: Neurology of the newborn, 6th edn. WB Saunders, Philadelphia;2018. pp 897.
Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, et al. Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1). Ann Neurol 2003;54:719-724.
Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, et al. Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy. The American Journal of Human Genetics; 2008. 82(1), 188-193.
Rudnik‐Schöneborn S, Sztriha L, Aithala GR, Houge G, Legreid LM, Seeger J, et al. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. American Journal of Medical Genetics; 2003. 117A(1), 10-17.
