Kanalopatiler ve Miyotonik Bozuklukların Tanı ve Tedavisi
Özet
Kanalopatiler, iyon kanallarındaki genetik veya kazanılmış bozukluklar nedeniyle ortaya çıkan ve nöron ile iskelet kası gibi uyarılabilen dokuları etkileyen geniş bir hastalık grubudur. Miyotonik distrofiler, kas güçsüzlüğü ve myotoni ile karakterize olup multisistemik semptomlarla seyreden karmaşık genetik hastalıklardır. Tanı süreçlerinde aile öyküsü ve klinik bulguların yanı sıra genetik analizler altın standart olarak kabul edilir. Tedavi ise multidisipliner bir yaklaşım gerektirerek destekleyici bakımı, semptomatik farmakolojik tedavileri ve dikkatli anestezi yönetimini kapsar.
Channelopathies represent a broad spectrum of disorders resulting from genetic or acquired ion channel defects that affect excitable tissues like neurons and skeletal muscles. Myotonic dystrophies are genetically heterogeneous, multisystemic conditions characterized by primary symptoms such as muscle weakness and myotonia. Diagnosis relies primarily on clinical assessment and genetic analysis, which serves as the gold standard for confirmation. Management demands a multidisciplinary approach focusing on supportive care, symptom-specific pharmacotherapy, and careful anesthetic planning to address complex systemic complications.
Referanslar
Kim JB. Channelopathies. Korean J Pediatr. 2014 ;57(1):1-18.
Bartolini E, Campostrini R, Kiferle L, Pradella S, Rosati E, Chinthapalli K, Palumbo P. Epilepsy and brain channelopathies from infancy to adulthood. Neurol Sci. 2020;41(4):749-761.
Bennett DL, Woods CG. Painful and painless channelopathies. Lancet Neurol. 2014;13(6):587-99.
Phillips L, Trivedi JR. Skeletal Muscle Channelopathies. Neurotherapeutics. 2018;15(4):954-965.
Johnson NE. Myotonic Muscular Dystrophies. Continuum (Minneap Minn). 2019;25(6):1682-1695.
Darras BT. Myotonic dystrophy: Etiology, clinical features, and diagnosis. Official reprint from UpToDate www.uptodate.com © 2021 UpToDate, Inc. and/or its affiliates.
Morales F, Couto JM, Higham CF, Hogg G, Cuenca P, Braida C, Wilson RH, Adam B, del Valle G, Brian R, Sittenfeld M, Ashizawa T, Wilcox A, Wilcox DE, Monckton DG. Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Hum Mol Genet. 2012;21(16):3558-67.
Turner C, Hilton-Jones D. Myotonic dystrophy: diagnosis, management and new therapies. Curr Opin Neurol. 2014;27(5):599-606.
Dalton JC, Ranum LPW, Day JW. Myotonic dystrophy type 2. GeneReviews. www.ncbi.nlm.nih.gov/books/NBK1466/ (Accessed on October 17, 2016).
Liquori CL, Ricker K, Moseley ML et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001;293(5531):864-7.
Ho G, Cardamone M, Farrar M. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World J Clin Pediatr. 2015;4(4):66-80.
Machuca TL, Brook D, Hilton JD. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve. 2005;32(1):1-18.
Ho G, Carey KA, Cardamone M, Farrar MA. Myotonic dystrophy type 1: clinical manifestations in children and adolescents. Arch Dis Child. 2019;104(1):48-52.
Meola G, Cardani R. Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. Neurological Sciences: Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2017;38(4):535-546.
Campbell C, Levin S, Siu VM, Venance S, Jacob P. Congenital myotonic dystrophy: Canadian population-based surveillance study. J Pediatr. 2013;163(1):120-5.e1-3.
Richard TM, Chat Heatwole. Channelopathies: Myotonic Disorders and Periodic Paralysis. Swaiman's Pediatric Neurology,6th Edition Principles and Practice. 2017; 2605-2625.
Darin N, Tulinius M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord. 2000;10(1):1-9.
Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol. 2012;11(10):891-905.
Zaki M, Boyd PA, Impey L, Roberts A, Chamberlain P. Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. Ultrasound Obstet Gynecol. 2007;29(3):284-8.
Papadimas GK, Kekou K, Papadopoulos C, Kararizou E, Kanavakis E, Manta P. Phenotypic variability and molecular genetics in proximal myotonic myopathy. Muscle Nerve. 2015;51(5):686-91.
Logullo F, Censori B, Danni M, Del Pesce M, Di Bella P, Provinciali L. Peripheral neuropathy in myotonic dystrophy: electrophysiological and clinical features. Electromyogr Clin Neurophysiol. 1992;32(10-11):515-20.
Milone M, Batish SD, Daube JR. Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia. Muscle Nerve. 2009;39(3):383-5.
Donahue LA, Mangla R, Westesson PL. Neuroimaging in myotonic dystrophy type 1. Neurology. 2009;73(22):1931.
Basil TD. Myotonic dystrophy: Treatment and prognosis. www.uptodate.com © 2021 UpToDate.
Kierkegaard M, Harms-Ringdahl K, Edström L, Widén Holmqvist L, Tollbäck A. Feasibility and effects of a physical exercise programme in adults with myotonic dystrophy type 1: a randomized controlled pilot study. J Rehabil Med. 2011;43(8):695-702.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC. Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev. 2013;(7):CD003907.
Orngreen MC, Olsen DB, Vissing J. Aerobic training in patients with myotonic dystrophy type 1. Ann Neurol. 2005;57(5):754-7.
Bassez G, Lazarus A, Desguerre I et al. Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology. 2004;63(10):1939-41.
Kang SY, Kang HJ, Chung PW, Kim KK, Lee S, Choi BO. Congestive heart failure after physical exercise in a young patient with myotonic dystrophy type 1. Int J Neurosci. 2011;121(11):637-9.
Logigian EL, Martens WB, Moxley RT 4th et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology. 2010;74(18):1441-8.
Van OT, Stunnenberg BC, Sternberg D, Kerklaan BJ. Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita. Muscle Nerve. 2018;58(4):27-28.
Palma C, Prior C, Gómez GC et al. A SCN4A mutation causing paramyotonia congenita. Neuromuscul Disord. 2017;27(12):1123-1125.
Huang S, Zhang W, Chang X, Guo J. Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review. Channels (Austin). 2019;13(1):110-119.
Yoshida K, Fukushima Y. Paramyotonia congenita. Ryoikibetsu Shokogun Shirizu. 2001;34(2):474-5.
Taminato T, Mori YM, Miki J et al. Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review. J Neuromuscul Dis. 2020;7(2):193-201.
Lossin C, George AL Jr. Myotonia congenita. Adv Genet. 2008; 63:25-55.
Colding JE. Thomsens sygdom (myotonia congenita) [Thomsen disease (myotonia congenita]. Ugeskr Laeger. 2004;6;166(37):3179-84.
Becker PE. Heterozygote manifestation in recessive generalized myotonia. Hum Genet. 1979;46, 325–329.
Milla CP, De Castro CP, Gómez-González C et al. Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients. J Genet. 2019; 98:71.
Nojszewska M, Lusakowska A, Gawel M et al. The needle EMG findings in myotonia congenita. J Electromyogr Kinesiol. 2019; 49:102362.
Conravey A, Santana GL. Myotonia congenita and myotonic dystrophy: surveillance and management. Curr Treat Options Neurol. 2010;12(1):16-28.
Pérez AR, Barbosa R, Samesina N et al. Andersen-Tawil Syndrome: A Comprehensive Review. Cardiol Rev. 2021;29(4):165-177.
Parihar J, Chakraborty P, Kaul B. Andersen-Tawil syndrome presenting as premenstrual periodic paralysis. Muscle Nerve. 2021;63(1):5-6.
Suetterlin K, Männikkö R, Flossmann E et al. Andersen-Tawil Syndrome Presenting with Complete Heart Block. J Neuromuscul Dis. 2021;8(1):151-154.
Tristani FM, Jensen JL, Donaldson MR et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002;110(3):381-8.
Veerapandiyan A, Statland JM, Tawil R. Andersen-Tawil Syndrome. 2004 Nov 22 [Updated 2018 Jun 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
Sansone V, Tawil R. Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics. 2007;4(2):233-7.
Surtees R. Inherited ion channel disorders. Eur J Pediatr. 2000;159(3):199-203.
Kubota T, Kinoshita M, Sasaki R et al. New mutation of the Na channel in the severe form of potassium-aggravated myotonia. Muscle Nerve. 2009;39(5):666-73.
Rempe T, Subramony SH. "Status myotonicus" in Nav1.4-M1592V channelopathy. Neuromuscul Disord. 2020;30(5):424-426.
Stunnenberg BC, LoRusso S, Arnold WD et al. Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle Nerve. 2020;62(4):430-444.
Chrestian N, Puymirat J, Bouchard JP, Dupre N. Myotonia congenita--a cause of muscle weakness and stiffness. Nat Clin Pract Neurol. 2006 ;2(7):393-9.
