The myotonias and susceptibility to malignant hyperthermia

Anesthesia and Analgesia

Volumn 109, Issue 4, 2009, Pages 1054-1064

  Parness, Jerome ^a   Bandschapp, Oliver ^b   Girard, Thierry ^b  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; ANESTHETIC AGENT; DANTROLENE; DEXTRORAMIDE; ETHER; HALOTHANE; INHALATION ANESTHETIC AGENT; MUSCLE RELAXANT AGENT; NEUROLEPTIC AGENT; NEUROMUSCULAR BLOCKING AGENT; NITROUS OXIDE; PROPOFOL; RYANODINE RECEPTOR 1; SEVOFLURANE; SUXAMETHONIUM; THIOPENTAL; UNCLASSIFIED DRUG; ION CHANNEL;

ABSENCE OF SIDE EFFECTS; ACETAZOLAMIDE RESPONSIVE MYOTONIA; ACIDOSIS; ANESTHESIA COMPLICATION; AUTOSOMAL DOMINANT DISORDER; CAFFEINE HALOTHANE CONTRACTURE TEST; CALCIUM CHANNELOPATHY; CHLORIDE CHANNELOPATHY; DISEASE PREDISPOSITION; EXCITATION CONTRACTION COUPLING; GENE MUTATION; HUMAN; HYPERTHERMIA; HYPOKALEMIC PERIODIC PARALYSIS; MALIGNANT HYPERTHERMIA; MOTONEURON; MUSCLE ACTION POTENTIAL; MUSCLE EXCITATION; MUSCLE RIGIDITY; MUSCLE STIFFNESS; MUSCULOSKELETAL SYSTEM EXAMINATION; MYOPATHY; MYOTONIA; MYOTONIA FLUCTUANS; MYOTONIA PERMANENS; MYOTONIC DYSTROPHY; NERVE CELL STIMULATION; OCULOGYRIC CRISIS; PATHOPHYSIOLOGY; PHYSIOLOGY; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SIDE EFFECT; SODIUM CHANNELOPATHY; THOMSEN DISEASE; ANESTHESIA; ANIMAL; EVIDENCE BASED MEDICINE; GENETIC PREDISPOSITION; GENETICS; HYPOKALEMIA; METABOLISM; MUSCLE CONTRACTION; RISK FACTOR; SIGNAL TRANSDUCTION; SKELETAL MUSCLE;

ANESTHESIA; ANIMALS; EVIDENCE-BASED MEDICINE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOKALEMIA; ION CHANNELS; MALIGNANT HYPERTHERMIA; MUSCLE CONTRACTION; MUSCLE, SKELETAL; MYOTONIC DISORDERS; RISK ASSESSMENT; RISK FACTORS; SIGNAL TRANSDUCTION;

EID: 70349573498     PISSN: 00032999     EISSN: None     Source Type: Journal    
DOI: 10.1213/ane.0b013e3181a7c8e5     Document Type: Article

References (70)

1. Nelson TE. Malignant hyperthermia: a pharmacogenetic disease of Ca++ regulating proteins. Curr Mol Med 2002;2:347-369
2. Yang T, Allen PD, Pessah IN, Lopez JR. Enhanced excitationcoupled calcium entry in myotubes is associated with expression of RyR1 malignant hyperthermia mutations. J Biol Chem 2007;282:37471-37478
3. Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 2006;27:977-989 (Pubitemid 44454050)
4. Jurkat-Rott K, Lerche H, Lehmann-Horn F. Skeletal muscle channelopathies. J Neurol 2002;249:1493-1502
5. Cannon SC. Physiologic principles underlying ion channelopathies. Neurotherapeutics 2007;4:174-183
6. Zhao X, Weisleder N, Han X, Pan Z, Parness J, Brotto M, Ma J. Azumolene inhibits a component of store-operated calcium entry coupled to the skeletal muscle ryanodine receptor. J Biol Chem 2006;281:33477-33486 (Pubitemid 46036729)
7. Cherednichenko G, Hurne AM, Fessenden JD, Lee EH, Allen PD, Beam KG, Pessah IN. Conformational activation of Ca2+ entry by depolarization of skeletal myotubes. Proc Natl Acad Sci U S A 2004;101:15793-15798 (Pubitemid 39473567)
8. Ong HL, Cheng KT, Liu X, Bandyopadhyay BC, Paria BC, Soboloff J, Pani B, Gwack Y, Srikanth S, Singh BB, Gill D, Ambudkar IS. Dynamic assembly of TRPC1/STIM1/Orai1 ternary complex is involved in store operated calcium influx: evidence for similarities in SOC and CRAC channel components. J Biol Chem 2007;282:9105-9116 (Pubitemid 47093540)
9. Liao Y, Erxleben C, Yildirim E, Abramowitz J, Armstrong DL, Birnbaumer L. Orai proteins interact with TRPC channels and confer responsiveness to store depletion. Proc Natl Acad Sci U S A 2007;104:4682-4687 (Pubitemid 47186285)
10. Hurne AM, O'Brien JJ, Wingrove D, Cherednichenko G, Allen PD, Beam KG, Pessah IN. Ryanodine receptor type 1 (RyR1) mutations C4958S and C4961S reveal excitation-coupled calcium entry (ECCE) is independent of sarcoplasmic reticulum store depletion. J Biol Chem 2005;280:36994-37004 (Pubitemid 41587783)
11. Lyfenko AD, Dirksen RT. Differential dependence of storeoperated and excitation-coupled Ca2+ entry in skeletal muscle on STIM1 and Orai1. J Physiol 2008;586:4815-4824
12. Cherednichenko G, Ward CW, Feng W, Cabrales E, Michaelson L, Samso M, Lopez JR, Allen PD, Pessah IN. Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene. Mol Pharmacol 2008;73:1203-1212
13. Stiber J, Hawkins A, Zhang ZS, Wang S, Burch J, Graham V, Ward CC, Seth M, Finch E, Malouf N, Williams RS, Eu JP, Rosenberg P. STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle. Nat Cell Biol 2008;10:688-697 (Pubitemid 351772934)
14. Stedman's Medical Dictionary. 23rd ed. Baltimore, MD: Williams & Wilkins, 1976
15. Heatwole CR, Moxley RT III. The nondystrophic myotonias. Neurotherapeutics 2007;4:238-251
16. Ryan AM, Matthews E, Hanna MG. Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias. Curr Opin Neurol 2007;20:558-563 (Pubitemid 47462286)
17. Deymeer F, Cakirkaya S, Serdaroglu P, Schleithoff L, Lehmann-Horn F, Rudel R, Ozdemir C. Transient weakness and compound muscle action potential decrement in myotonia congenita. Muscle Nerve 1998;21:1334-1337 (Pubitemid 28406720)
18. Farbu E, Softeland E, Bindoff LA. Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. Acta Anaesthesiol Scand 2003;47:630-634 (Pubitemid 36539513)
19. Orndahl G. Myotonic human musculature: stimulation with depolarizing agents. II. A clinico-pharmacological study. Acta Med Scand 1962;172:753-765
20. Heiman-Patterson T, Martino C, Rosenberg H, Fletcher J, Tahmoush A. Malignant hyperthermia in myotonia congenita. Neurology 1988;38:810-812
21. 1306-to- alanine mutation in the adult muscle sodium channel α-subunit gene. Anesthesiology 1995; 82:1097-1103
22. Saidman LJ, Havard ES, Eger EI. Hyperthermia during anesthesia. JAMA 1964;190:1029-1032
23. Haberer JP, Fabre F, Rose E. Malignant hyperthermia and myotonia congenita (Thomsen's disease). Anaesthesia 1989; 44:166 (Pubitemid 19062217)
24. Newberg LA, Lambert EH, Gronert GA. Failure to induce malignant hyperthermia in myotonic goats. Br J Anaesth 1983;55:57-60
25. Russell SH, Hirsch NP. Anaesthesia and myotonia. Br J Anaesth 1994;72:210-216
26. Buzello W, Krieg N, Schlickewei A. Hazards of neostigmine in patients with neuromuscular disorders. Report of two cases. Br J Anaesth 1982;54:529-534
27. Hayashida S, Yanagi F, Tashiro M, Terasaki H. [Anesthetic managements of a patient with congenital myotonia (Becker type)]. Masui 2004;53:1293-1296 (Pubitemid 39612153)
28. Kullmann DM, Hanna MG. Neurological disorders caused by inherited ion-channel mutations. Lancet Neurology 2002;1: 157-166 (Pubitemid 37163484)
29. Lisak RP, Lebeau J, Tucker SH, Rowland LP. Hyperkalemic periodic paralysis and cardiac arrhythmia. Neurology 1972;22: 810-815
30. Mohammadi B, Jurkat-Rott K, Alekov A, Dengler R, Bufler J, Lehmann-Horn F. Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence. Pharmacogenet Genomics 2005;15:235-244 (Pubitemid 40569895)
31. Ay B, Gercek A, Dogan VI, Kiyan G, Gogus YF. Pyloromyotomy in a patient with paramyotonia congenita. Anesth Analg 2004;98:68-69
32. Lehmann-Horn F, Kuther G, Ricker K, Grafe P, Ballanyi K, Rudel R. Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve 1987;10:363-374 (Pubitemid 17052561)
33. Hayward LJ, Sandoval GM, Cannon SC. Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology 1999;52:1447-1453
34. Cannon SC. Pathomechanisms in channelopathies of skeletal muscle and brain. Annu Rev Neurosci 2006;29:387-415
35. Ashwood EM, Russell WJ, Burrow DD. Hyperkalaemic periodic paralysis and anaesthesia. Anaesthesia 1992;47:579-584
36. Weller JF, Elliott RA, Pronovost PJ. Spinal anesthesia for a patient with familial hyperkalemic periodic paralysis. Anesthesiol 2002;97:259-260
37. Paterson IS. Generalized myotonia following suxamethonium. A case report. Br J Anaesth 1962;34:340-342
38. Cody JR. Muscle rigidity following administration of succinylcholine. Anesthesiology 1968;29:159-162
39. Aarons JJ, Moon RE, Camporesi EM. General anesthesia and hyperkalemic periodic paralysis. Anesthesiology 1989;71:303-304
40. Klingler W, Lehmann-Horn F, Jurkat-Rott K. Complications of anaesthesia in neuromuscular disorders. Neuromuscul Disord 2005;15:195-206
41. Lehmann-Horn F, Iaizzo PA. Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? Br J Anaesth 1990;65:692-697
42. Moslehi R, Langlois S, Yam I, Friedman JM. Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am J Med Genet 1998;76:21-27 (Pubitemid 28104295)
43. Lehmann-Horn F, Rüdel R, Jurkat-Rott K. Nondystrophic myotonias and periodic paralyses. In: Englel AG, Franzini-Armstrong C, eds. Myology: basic and clinical. 3rd ed. New York: McGraw-Hill, 2004:1257-1300
44. Cone AM, Sansome AJ. Propofol in hyperkalaemic periodic paralysis. Anaesthesia 1992;47:1097
45. Haeseler G, Stormer M, Bufler J, Dengler R, Hecker H, Piepenbrock S, Leuwer M. Propofol blocks human skeletal muscle sodium channels in a voltage-dependent manner. Anesth Analg 2001;92:1192-1198 (Pubitemid 32385941)
46. Rosenbaum HK, Miller JD. Malignant hyperthermia and myotonic disorders. Anesthesiol Clin North America 2002;20:623-664
47. Jurkat-Rott K, McCarthy T, Lehmann-Horn F. Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve 2000;23: 4-17
48. Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 2005;6:743-755
49. Cho DH, Tapscott SJ. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta 2007; 1772:195-204
50. Day JW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord 2005;15:5-16
51. Schara U, Schoser BG. Myotonic dystrophies type 1 and 2: a summary on current aspects. Semin Pediatr Neurol 2006;13:71-79 (Pubitemid 44486821)
52. Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005;32:1-18 (Pubitemid 40917885)
53. Kuyumcu-Martinez NM, Cooper TA. Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. Prog Mol Subcell Biol 2006;44:133-159
54. Cooper TA. A reversal of misfortune for myotonic dystrophy? N Engl J Med 2006;355:1825-1827
55. Schneider C, Pedrosa GF, Schneider M, Anetseder M, Kress W, Muller CR. Intolerance to neuroleptics and susceptibility for malignant hyperthermia in a patient with proximal myotonic myopathy (PROMM) and schizophrenia. Neuromuscul Disord 2002;12:31-35 (Pubitemid 33122149)
56. Iaizzo PA, Lehmann-Horn F. Anesthetic complications in muscle disorders. Anesthesiology 1995;82:1093-1096
57. Lambert C, Blanloeil Y, Horber RK, Berard L, Reyford H, Pinaud M. Malignant hyperthermia in a patient with hypokalemic periodic paralysis. Anesth Analg 1994;79:1012-1014 (Pubitemid 24324688)
58. Rollman JE, Dickson CM. Anesthetic management of a patient with hypokalemic familial periodic paralysis for coronary artery bypass surgery. Anesthesiology 1985;63:526-527
59. Morrill JA, Cannon SC. Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes. J Physiol 1999;520:321-336
60. Siler JN, Discavage WJ. Anesthetic management of hypokalemic periodic paralysis. Anesthesiol 1975;43:489-490
61. Bashford AC. Case report: anaesthesia in familial hypokalaemic periodic paralysis. Anaesth Intensive Care 1977;5:74-75 (Pubitemid 8044940)
62. Rajabally YA, El Lahawi M. Hypokalemic periodic paralysis associated with malignant hyperthermia. Muscle Nerve 2002;25: 453-455 (Pubitemid 34203226)
63. Marchant CL, Ellis FR, Halsall PJ, Hopkins PM, Robinson RL. Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia. Muscle Nerve 2004;30:114-117
64. Neuman GG, Kopman AF. Dyskalemic periodic paralysis and myotonia. Anesth Analg 1993;76:426-428
65. Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignanthyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 1997;60:1316-1325 (Pubitemid 27258063)
66. Avila G. Intracellular Ca(2+) dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved. Cell Calcium 2005;37:121-127
67. Treves S, Jungbluth H, Muntoni F, Zorzato F. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 2008;8:319-326
68. Larach MG, Localio AR, Allen GC, Denborough MA, Ellis FR, Gronert GA, Kaplan RF, Muldoon SM, Nelson TE, Ording H. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology 1994;80:771-779 (Pubitemid 24128939)
69. Rooney RT, Shanahan EC, Sun T, Nally B. Atracurium and hypokalemic familial periodic paralysis. Anesth Analg 1988; 67:782-783 (Pubitemid 18181408)
70. Laurito CE, Becker GL, Miller PE. Atracurium use in a patient with familial periodic paralysis. J Clin Anesth 1991;3:225-228