Nöromusküler Bileşke Hastalıkları
Özet
Nöromusküler bileşke hastalıkları, çocukluk çağında edinsel veya kalıtsal nedenlerle ortaya çıkan, sinaptik iletimdeki aksaklıklardan kaynaklanan karmaşık bir bozukluk grubudur. Juvenil miyastenia gravis, konjenital miyastenik sendromlar ve botulizm gibi çeşitli tabloları içeren bu durumlar, temel olarak asetilkolin sinyal yolağındaki yapısal veya fonksiyonel defektlere dayanır. Tanı süreci klinik gözlem, serolojik tetkikler ve elektrofizyolojik incelemelere dayanırken; tedavi yaklaşımı, hastalığın spesifik mekanizmasına göre antikolinesterazlar, immünmodülatörler veya cerrahi müdahaleleri içeren multidisipliner bir strateji gerektirir.
Neuromuscular junction diseases in childhood comprise a diverse group of acquired or hereditary disorders resulting from disruptions in synaptic transmission. Including conditions such as juvenile myasthenia gravis, congenital myasthenic syndromes, and botulism, these pathologies stem primarily from structural or functional defects within the acetylcholine signaling pathway. Diagnosis relies on clinical evaluation, serological analysis, and electrophysiological testing, while treatment requires a multidisciplinary approach tailored to the specific disease mechanism, utilizing anticholinesterases, immunomodulators, or surgical interventions as appropriate.
Referanslar
Wolfe GI, Barohn RJ. Disease of the neuromuscular junction. Swaimann KF, Ashwal S, Ferriero DM, eds. Pediatric Neurology: principles&practice. 4th ed. Philedelphia: Mosby;2006. p.1941-1968.
Peragallo JH. Pediatric myasthenia gravis. Semin Pediatr Neurol. 2017;24:116-121.
Campanari ML, Bourefis AR, Kabashi E. Diagnostic Challenge and Neuromuscular Junction Contribution to ALS Pathogenesis. Neurol. 2019 Feb 6;10:68.
Evoli A. Acquired myasthenia gravis in childhood. Curr Opin Neurol. 2010;23:536-540.
Ciafaloni E. Myasthenia gravis and congenital myasthenic syndromes. Continuum (Minneap Minn). 2019 Dec;25(6):1767-1784.
Chiang LM, Darras BT, Kang PB. Juvenile myasthenis gravis. Muscle Nerve. 2009;39:423-431.
O'Connell K, Ramdas S, Palace J. Management of Juvenile Myasthenia Gravis. Front Neurol. 2020 Jul 24;11:743.
Della Marina A, Trippe H, Lutz S, Schara U. Juvenile myasthenia gravis: recommendations for diagnostic approaches and treatment. Neuropediatrics. 2014 Apr;45(2):75-83.
Anlar B. Juvenile myasthenia: diagnosis and treatment. Paediatr Drugs. 2000 May-Jun;2(3):161-9.
Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S. How common is childhood myastenia?The UK incidence and prevalence of autoimmune and congenital myastenia. Arch Dis Child. 2014;99:539-542.
Popperud TH, Boldingh MI, Brunborg C, et al. Juvenile myastenia gravis in Norway: a nationwide epidemiological study. Eur J Paediatr Neurol. 2017;21: 312-317.
Pedersen EG, Hallas J, Hansen K, Jensen PE, Gaist D. Late-onset myasthenis not on the increase : a nationwide register study in Denmark, 1996-2009. Eur J Neurol. 2013;20:309-314.
Mansukhani SA, Bothun ED, Diehl NN, Mohney BG. Incidence and Ocular Features of Pediatric Myasthenias. Am J Ophthalmol. 2019 Apr;200:242-249.
Mombaur B, Lesosky MR, Liebenberg L, Vreede H, Heckmann. Incidence of acetylcholine receptor-antibody-positive myasthenia gravis in South Africa. JM.Muscle Nerve. 2015 Apr;51(4):533-7.
Huang X, Liu WB, Men LN, et al. Clinical features of myasthenia gravis in Southern China: a retrospective review of 2154 cases over 22 years. Neurol Sci. 2013;34:911-917.
Murai H, Noda T, Himeno E, et al. Infantile onset myasthenia gravis with MuSK antibodies. Neurology. 2006 Jul 11;67(1):174.
Vincent A. Antibodies and receptors: From Neuromuscular Junction to Central Nervous System. Neuroscience. 2020 Jul 15;439:48-61.
Liew WK, Kang PB. Update on juvenile myasthenia gravis. Curr Opin Pediatr. 2013 Dec;25(6):694-700.
Berrih-Aknin S, Le Panse R.Thymectomy in myasthenia gravis: when, why, and how? Lancet Neurol. 2019 Mar;18(3):225-226.
Finnis MF, Jayawant S. Juvenile myasthenia gravis: a paediatric perspective. Autoimmune Dis. 2011;2011:404101.
Pasnoor M, Dimachkie MM, Farmakidis C, Barohn RJ. Diagnosis of Myasthenia Gravis. Neurol Clin. 2018 May;36(2):261-274.
Kurt E, Bekircan-Kurt CE, Konuşkan B, Erkent İ, Tan E, Anlar B. Two sisters with anti-MuSK-positive myasthenia gravis. Clin Neurol Neurosurg. 2019 Jul;182:17-18.
Vecchio D, Ramdas S, Munot P, et al. Paediatric myasthenia gravis: Prognostic factors for drug free remission. Neuromuscul Disord. 2020 Feb;30(2):120-127.
Sanders DB, Wolfe GI, Narayanaswami P. Developing treatment guidelines for myasthenia gravis. MGFA Task Force on MG Treatment Guidance. Ann N Y Acad Sci. 2018 Jan;1412(1):95-101.
Zhou I, McConville J, Chaudry V, et al. Clinical comparison of muscle-spesific tyrozine kinase (MuSK) antibody-positive and –negative myasthenic patients. Muscle Nerve. 2004;30:55-60.
Jastrzębska A, Jastrzębski M, Ryniewicz B, Kostera-Pruszczyk A. Treatment outcome in juvenile-onset myasthenia gravis. Muscle Nerve. 2019 May;59(5):549-554.
Europa TA, Nel M, Heckmann JM.Myasthenic ophthalmoparesis: Time To resolution after initiating immune therapies. Muscle Nerve. 2018 Oct;58(4):542-549.
Gui M, Luo X, Lin J, Li Y, Zhang M, Zhang X, et al. Long-term outcome of 424 children-onset myasthenia gravis patients. J Neurol. 2015;262:823-830.
Asharaf VV, Taly AB, Veerendrakumar M, Rao S. Myasthenia gravis in children: a longitudinal study. Acta Neurol Scand. 2006;114:119-123.
Tracy MM, McRae W, Millichap JG. Graded response to thymectomy in children with myasthenia gravis. J Child Neurol. 2009;24:454-459.
Kostera-Pruszczyk A, Kwiecinski H. Juvenile seropositive myasthenia gravis with anti-MuSK antibody after thymectomy. J Neurol. 2009 Oct;256(10):1780-1781.
Brueton LA, Huson SM, Cox PM, et al. Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype. Am J Med Genet. 2000 May 1;92(1):1-6.
Oskoui M, Jacobson L, Chung WK, et al. Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis. Neurology. 2008 Dec 9;71(24):2010-2012.
Vanhaesebrouck AE, Beeson D. The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies. Curr Opin Neurol. 2019 Oct;32(5):696-703.
Finsterer J.Congenital myasthenic syndromes. Orphanet J Rare Dis. 2019 Feb 26;14(1):57.
Heckmann JM. Juvenile myasthenia gravis. Eur J Paediatr Neurol. 2017 Sep;21(5):696.
Engel AG. Congenital Myasthenic Syndromes in 2018. Curr Neurol Neurosci Rep. 2018 Jun 12;18(8):46.
Günbey C, Sel K, Temuçin ÇM, Aykan HH, Konuşkan B, Karagöz T, Anlar B. Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes. Neuromuscul Disord. 2019 Apr;29(4):290-295.
Abicht A, Müller J S, Lochmüller H.Congenital Myasthenic Syndromes. 2003 May 9 [updated 2016 Jul 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.
Dowling JJ, D Gonorazky H, Cohn RD, Campbell C. Treating pediatric neuromuscular disorders: The future is now. Am J Med Genet. 2018 Apr;176(4):804-841.
Titulaer MJ, Lang B, Verschuuren JJ. Lambert- Eaton myasthenic syndrome: from clinical characteristics to therapeutic strategies. Lancet Neurol. 2011 Dec;10(12):1098-107.
Guidon AC.Lambert-Eaton Myasthenic Syndrome, Botulism, and Immune Checkpoint Inhibitor-Related Myasthenia Gravis. Continuum (Minneap Minn). 2019 Dec;25(6):1785-1806.
Wolfe GI, Kaminski HJ, Aban IB, et al. Randomized trial of tymectomy in myasthenia gravis. N Eng J Med. 2016;375:511-522.
Rosow LK, Strober JB. Infant botulism: review and clinical update. Pediatr Neurol. 2015 May;52(5):487-92.
