Resumen
En éste artículo se describen los diferentes tipos del miotonía, entidades relacionadas, fisiopatología y manejo, haciendo énfasis en la paramiotonía congénita (Acta Neurol Colomb 2006;22:253-256.
Citas
Strümpell A. Tonische Krámpfe in willkürulich bewegten Musklen (miotonía Congenita)). Berl Klin Wochenschr 9:119.1891.
Rüdel R, Lehmann-Horn F, Ricker K. Altered excitability of the muscle cell membrane. In: Engel AG, Franzini-Armstrong C, eds. Myology. New York: McGraw- Hill; 1994:1291-1334.
Harper C M. Myopathies. In: Jones H.R, Bolton C F, Harper C M. Pediatric Clinical Eletromyography. Philadelphia: Lippincott-Raven; 1996: 387-443.
Lehmann-Horn F, Rüdel R. Hereditary nondystrophic myotonias and periodic paralyses. Curr Opin Neurol 1995; 8: 402-410.
Eulenberg A. Uber eine familiazre, durch Generationen verfolgbare Form congenitaler Paramyotonie. Neurol Zentralbl 1886; 5: 265-72.
Lehmann-Horn F, Engel AG, Ricker K, Rüdel R. The periodic paralyses and paramyotonia congenita. In: Engel AG, Franzini-Armstrong C, eds. Myology. 2nd ed. New York:McGraw Hill; 1994:1303-1334.
Borg K, Hovmöller M, Larsson L, et al. Paramyotonia congenita (Eulenburg): clinical, neurophysiological and muscle biopsy observations in a Swedish family. Acta Neurol Scand 1993; 87:37-42.
Richmond JE, Featherstone DE, Ruben PC. Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis. J Physiol 1997;499:589-600.
Lehmann-Horn F, Rüdel R. Hereditary nondystrophic myotonias and periodic paralyses. Curr Opin Neurol 1995;8:402-410.
Ptacek LJ, Gouw L, Kwiecipski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993; 33:300-307.
Hudson AJ. Progressive neurological disorder and myotonia congenita associated with paramyotonia. Brain 1963; 86: 811-826.
Rojas CV, Wang JZ, Schwartz LS et al. A Met- to-Val mutation in the skeletal muscle Na+ channel alpha- subunit in hyperkalaemic periodic paralysis. Nature 1991; 354: 387-389.
Ptacek LJ, Tawil R, Griggs RC, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994; 44:1500-1503.
Ptacek LJ, George AL, Barchi RL, et al. Mutations in an S4 Segment of the adult skeletal muscle sodium channel cause paramyotonia-congenita. Neuron 1992; 8: 891-897.
Yang N, Ji S, Zhou M, et al. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci 1994; 91: 12785-12789.
Plassart E, Eymard B, Maurs L, et al. Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. J Neurol Sci 1996; 142:126-13.
Wagner S, Lerche H, Mitrovic N et al. A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology 1997; 49: 1018-1025.
Ptacek LJ, George AL, Barchi RL, et al. Mutations in an S4 Segment of the adult skeletal muscle sodium channel cause paramyotonia-congenita. Neuron 1992; 8: 891-897.
Yang N, Ji S, Zhou M, et al. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci 1994; 91: 12785-12789.
Sugiera Y, Auki T, Sugiyama Y, et al. Temperature- sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. Neurology 2000; 54: 2179 - 2181.
Sugiyama Y, et al. Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. Neurology 2004; 62: 1012 - 1015.
Sasaki R, Takano H, Kamakura K, et al. A Novel Mutation in the Gene for the Adult Skeletal Muscle Sodium Channel {alpha}-Subunit (SCN4A) That Causes Paramyotonia Congenita of von Eulenburg Arch Neurol 1999; 56: 692 - 696.
Sampaolo S, Puca A. A., Nigro AA, et al. Lack of sodium channel mutation in an Italian family with paramyotonia congenital. Neurology 1999; 53: 1549 - 1549.
Bendahhou S, Cummins TR, Kwiecinski H, Waxman SG, et al. Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans. J Physiol 1999; 518: 337 - 344.
Orrell RW, Jurkat-Rott K, Lehmann-Horn F, et al. Familial cramp due to potassium-aggravated myotonia J Neurol Neurosurg Psych 1998; 65: 569 - 572.
Mohammadi B, Mitrovic N, Lehmann-Horn F, et al. Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V J Physiol 2003; 547: 691 - 698.
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