Sodium channelopathies
DOI:
https://doi.org/10.67667/NEU.v24i2.137Keywords:
SCN4A gene, periodic paralysis, myotoniaAbstract
The human NaV1.4 subunit is encoded by the SCN4A gene on chromosome 17q23.Mutations of NaV1.4 produce a variety of skeletal muscle phenotypes. Muscle excitability may be either pathologically enhanced or reduced as a consequence of NaV1.4 mutations.
Hyperexcitability presents clinically as muscle stiffness, termed myotonia, which results from an involuntary contraction that persists for several seconds after cessation of voluntary effort. Myotonic stiffness is usually most pronounced with the first forceful movements after several minutes of rest, and then decreases over seconds to minutes with continued voluntary muscle activity (warm-up phenomenon).
In some instances, myotonic stiffness may paradoxically worsen with repeated muscle effort and is termed paramyotonia. Reduced excitability of skeletal muscle arising from NaV1.4 defects may produce transient attacks of weakness or a chronic state of permanent myopathic weakness. The most common manifestation is periodic paralysis with recurrent episodes of moderate to severe weakness.
References
Milanov, I., Tournev, I., & Chamova, T. (2021). National consensus on diagnosis, treatment and prevention of hereditary neuromuscular disorders. Bulgarian Neurology, 22(S2), 1–35. https://www.nevrologiabg.com/journal/index.php/neurology/article/view/8.
Milanov, I., Tournev, I., & Chamova, T. (2020). National consensus on diagnosis, treatment and prevention of hereditary neuromuscular disorders: 2020. Movement Disorders, 17(S1), https://multiplesclerosis-bg.com/journal/index.php/md/article/view/45.
Borg, K., Hovmoller, M., Larsson, L., Edstrom, L. Paramyotonia congenita (Eulenburg): clinical, neurophysiological and muscle biopsy observations in a Swedish family. Acta Neurol Scand, 1993, 87, 7-42.
Bradley, W.G., Taylor, R., Rice, D.R. et al. Progressive myopathy
in hyperkalemic periodic paralysis. Arch Neurol, 1990, 47, 1013.
Calhoun, J.D., Isom, L.L.The role of non-pore-forming beta subunits in physiology and pathophysiology of voltage-gated sodium channels. Handb Exp Pharmacol, 2014, 221, 51-89.
Cannon, S. Sodium Channelopathies of Skeletal Muscle, 2018, 246, 309-330.
Davies, N.P., Eunson, L.H., Gregory, R.P., Mills, K.R., Morrison, P.J., Hanna, M.G. Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita. J Neurol Neurosurg Psychiatry, 2000, 68, 504-507.
Finsterer, J. Primary periodic paralyses, 2008, 3, 145-158.
Fontaine, B., Khurana, T.S., Hoffman, E.P. et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel a-subunit gene. Science, 1990, 250, 1000-1002.
Heatwole, C.R., Statland, J.M., Logigian, E.L. The diagnosis and treatment of myotonic disorders. Muscle Nerve, 2013, 47, 632-648.
Ikeda, K., Iwasaki, Y., Kinoshita, M. et al. Acetazolamideinduced muscle weakness in hypokalemic periodic paralysis. Intern Med, 2002, 41, 743-745.
Isom, L.L., De Jongh, K.S., Patton, D.E., Reber, B.F., Offord, J., Charbonneau, H., Walsh, K., Goldin, A.L., Catterall, W.A. Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel. Science, 1992, 256, 839-842.
Jurkat-Rott, K., Lehmann-Horn, F. Hyperkalemic periodic paralysis. Gene reviews, 2005.
Jurkat-Rott, K., Lehmann-Horn, F., Elbaz, A. et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet, 1994, 3, 1415-1419.
Lehmann-Horn, F., Jurkat-Rott, K. Voltage-gated ion channels and hereditary disease. Physiol Rev, 1999, 79, 1317-1372.
Lehmann-Horn, F., Rudel, R., Ricker, K. Non-dystrophic myotonias and periodic paralyses. Neuromuscul Disord, 1993, 3, 161-8.
Matthews, E., Tan, S.V., Fialho, D. et al. What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. Neurology, 2008, 70, 50-53.
Phillips, L., Trivedi, J.R. Skeletal muscle channelopathies. Neurotherapeutics, 2018, 15, 954-965.
Ptacek, L.J., George, A.Jr., Barchi, R.L. et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron, 1992, 8, 891-897.
Ptacek, L.J., George, A.Jr., Griggs, R.C. et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell, 1991, 67, 1021-1027.
Ricker, K., Camacho, L.M., Grafe, P., Lehmann-Horn, F., Rudel, R. Adynamia episodica hereditaria: what causes the weakness? Muscle Nerve, 1989, 12, 883-891.
Riggs, J.E., Griggs, R.C., Moxley, R.T. Acetazolamide-induced weakness in paramyotonia congenita. Ann Intern Med, 1977, 86, 169-173.
Sahin, I., Erdem, H., Tan, H., Tatar, A. Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents, 2018, 4, 567-572.
Samaha, F.J. Von Eulenbergs paramyotonia. A clinical study of restricted myotonia and episodic paralysis successfully controlled by chlorothiazide. Trans Am Neurol Assoc, 1964, 89, 87-91.
Sternberg, D., Maisonobe, T., Jurkat-Rott, K. et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain, 2001, 124, 1091-1099.
Sternberg, D., Tabti, N., Hainque, B., Fontaine, B. Hypokalemic periodic paralysis. Gene reviews, 2006.
Stunnenberg, B.C., LoRusso, S., Arnold, W.D., Barohn, R.J., Cannon, S.C., Fontaine, B., Griggs, R.C., Hanna, M.G., Matthews, E., Meola, G., Sansone, V.A., Trivedi, J.R., van Engelen, B.M., Vicart, S., Statland, J.M. Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle Nerve, 2020, 4, 430-444.
Trip, J., Drost, G., Ginjaar, H.B., et al. Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry, 2009, 80, 647-652.
Trivedi, J.R., Bundy, B., Statland, J., et al. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain, 2013, 136, 2189-2200.
Trimmer, J.S., Cooperman, S.S., Tomiko, S.A., Zhou, J., Crean, S.M., Boyle, M.B., Kallen, R.G., Sheng, Z., Barchi, R.L., Sigworth, F.J., Goodman, R.H., Agnew, W.S., Mandel, G. Primary structure and functional expression of a mammalian skeletal muscle sodium channel. Neuron, 1989, 3, 33-49.
Tyler, F.H., Stephens, F.E., Gunn, F.D., Perkoff, G.T. Studies in disorders of muscle. VII. Clinical manifestations and inheritance of a type of periodic paralysis without hypopotassemia. J Clin Invest, 1951, 30, 492-502.
Tawil, R., Venenace, S.L. Andersen-Tawil syndrome. Gene reviews, 2007.
Vicart , S., Sternberg, D., Fontaine, B., Meola, G. Human skeletal muscle sodium channelopathies, 2005, 4, 194-202.
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Copyright (c) 2023 Stanislava Blagoeva, Teodora Chamova, Ivailo Tournev
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