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383:. Similar to Paramyotonia Congenita, where potassium exacerbates myotonia in many phenotypes, Hyperkalemic Periodic Paralysis is another disorder of the SCN4A gene where high blood potassium levels result in muscle weakness, muscle paralysis (through weakness or through over excitation preventing movement), and sometimes myotonia. Many phenotypes of HyperKPP result in issues regulating blood potassium levels, often cause it to be high or causing
27:
119:
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Generally, repeated contraction of the muscle can alleviate the myotonia and relax the muscles thus improving the condition, however, this is not the case in paramyotonia congenita. This phenomenon is known as the "warm-up" reflex and is not to be confused with warming up before exercise, though they
307:
encoding the ClC-1 ion channel. More than 130 different mutations exist in total, and a large phenotypic variation is therefore present in this disease. The mutations are loss-of-function mutations that render the ClC-1 ion channel dysfunctional to varying degrees, with reduced chloride conductance
286:
a nucleotide expansion of either of two genes, related to type of disease, results in failure of correct expression (splicing of the mRNA) of the ClC-1 ion channel, due to accumulation of RNA in the cytosol of the cell. The ClC-1 ion channel is responsible for the major part of chloride conductance
1403:"Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine"
370:
gene that causes skeletal muscles to be unable to relax after contracting in bouts, typically following the consumption of potassium rich food. It is debated if potassium-aggravated myotonia is a distinct disease from
Paramyotonia Congenita, and recent academic papers have classified it both ways.
322:
Myotonia could be caused by genetic mutations in the SCN4A gene that encodes the skeletal muscle sodium channel subtype 4 (Nav1.4). Some studies have suggested that changes in physiological pH could have modulatory effects on Nav1.4 sodium channels, which could have manifestations in myotonic
1258:
McClatchey, Andrea I.; McKenna-Yasek, Diane; Cros, Didier; Worthen, Hilary G.; Kuncl, Ralph W.; DeSilva, Shari M.; Cornblath, David R.; Gusella, James F.; Brown, Robert H. (October 1992). "Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel".
1522:
1507:
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Birnberger, KL; Rüdel, R; Struppler, A (1 September 1975). "Clinical and electrophysiological observations in patients with myotonic muscle disease and the therapeutic effect of N-propyl-ajmaline".
403:. It too can result in myotonia, in addition to weakness and paralysis (from both lack of and excess signal to muscles). It also has been found to occur due to gene mutations other than SCN4A.
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may appear similar. Individuals with the disorder may have trouble releasing their grip on objects or may have difficulty rising from a sitting position and a stiff, awkward gait.
353:). This inability of muscles to relax worsening with exercise is often termed "paradoxical myotonia." Paramyotonia also frequently triggered by exercise, cold, and potassium.
37:
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712:
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Kwieciński, H; Lehmann-Horn, F; Rüdel, R (January 1984). "The resting membrane parameters of human intercostal muscle at low, normal, and high extracellular potassium".
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1.4 in skeletal muscle fiber membrane. Mutations may alter the kinetics of the channel, such that the channel fails to inactivate properly, thus allowing spontaneous
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Progressive
Muskeldystrophie Myotonie · Myasthenie: Symposium vom 30. November bis 4. Dezember 1965 anläßlich der 125. Wiederkehr des Geburtstages von Wilhelm Erb
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to occur after voluntary activity has terminated, prolonging relaxation of the muscle, or can result in paralysis if the relaxation is severely prolonged (see
426:
Myotonia occurs also in certain types of limb-girdle muscular dystrophies, myofibrillary myopathies, distal myopathies, and inclusion body myopathies. Other
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as a result. Reduced chloride conductance may result in myotonia, due to accumulation of potassium in the transverse-tubules in skeletal muscle (see
825:"Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy"
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Myotonia may present in the following diseases, with different causes related to the ion channels in the skeletal muscle fiber membrane (
251:
Myotonia can affect all muscle groups; however, the pattern of affected muscles can vary depending on the specific disorder involved.
1126:"A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels"
291:). When the splicing of the mRNA was corrected in vitro, ClC-1 channel function was greatly improved and myotonia was abolished.
380:
229:
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303:) of which two types called Becker's disease and Thomsen's disease exist. Both diseases are caused by mutations in the gene
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activity resulting from repetitive motor unit action potentials of peripheral origin. 100-200 cases have been reported.
338:
98:
45:
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Vicart, S.; Sternberg, D.; Fontaine, B.; Meola, G. (1 October 2005). "Human skeletal muscle sodium channelopathies".
70:
866:"Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing"
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Vicart, S.; Sternberg, D.; Fontaine, B.; Meola, G. (October 2005). "Human skeletal muscle sodium channelopathies".
950:"Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy"
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Symptoms of myotonia (documented in myotonia congenita) are more frequently experienced in women during pregnancy.
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Mankodi, A; Takahashi, MP; Jiang, H; Beck, CL; Bowers, WJ; Moxley, RT; Cannon, SC; Thornton, CA (July 2002).
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Braz, Luís; Soares-Dos-Reis, Ricardo; Seabra, Mafalda; Silveira, Fernando; Guimarães, Joana (October 2019).
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414:(also known as Isaac's Syndrome or NMT) causes peripheral nerve hyperexcitability that causes spontaneous
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399:. Similar to HyperKPP above, except that it's triggered by (and often causes) low potassium levels and
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in the skeletal muscle cell, and lack of sufficient chloride conductance may result in myotonia, (see
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1451:"Schwartz Jampel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is
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Basu, A; Nishanth, P; Ifaturoti, O (July 2009). "Pregnancy in women with myotonia congenita".
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People with disorders involving myotonia can have life-threatening reactions to certain
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after voluntary contraction or electrical stimulation, and the muscle shows an abnormal
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Colding-Jørgensen, Eskild (July 2005). "Phenotypic variability in myotonia congenita".
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576:"Myotonia Information Page | National Institute of Neurological Disorders and Stroke"
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Charlet-B, N; Savkur, RS; Singh, G; Philips, AV; Grice, EA; Cooper, TA (July 2002).
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Gutmann, Laurie; Phillips, Lawrence H., 2nd (September 1991). "Myotonia congenita".
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Wheeler, TM; Lueck, JD; Swanson, MS; Dirksen, RT; Thornton, CA (December 2007).
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disorders characterized by delayed relaxation (prolonged contraction) of the
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if you can. Unsourced or poorly sourced material may be challenged and
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as the EMG is normal. Other diseases that exhibit pseudo-myotonia are
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745:(in German), Berlin, Heidelberg: Springer, pp. 289–294,
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Killian, James M. (1 January 2010), Rolak, Loren A. (ed.),
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Ghovanloo MR, Abdelsayed M, Peters CH, Ruben PC (2018).
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1001:. Advances in Genetics. Vol. 63. pp. 25–55.
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739:"The Differentiation of Myotonia and Pseudomyotonia"
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International
Journal of Gynaecology and Obstetrics
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Delayed relaxation of muscles following contraction
430:may cause it as well. It is also associated with
312:). This is the same genetic disease that makes
659:"Brody disease: when myotonia is not myotonia"
51:Please review the contents of the article and
1592:Myoneural junction and neuromuscular diseases
314:certain strains of North American goats faint
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515:: CS1 maint: multiple names: authors list (
282:Two documented types, DM1 and DM2 exist. In
1401:Narayanaswami, P; Weiss, M (October 2014).
1386:: CS1 maint: numeric names: authors list (
737:Tyler, Frank H. (1966), Kuhn, Erich (ed.),
171:is a symptom of a small handful of certain
1597:Symptoms and signs: musculoskeletal system
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364:(PAM) results from in a mututation of the
331:This disease results from mutation in the
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545:, Philadelphia: Mosby, pp. 428–435,
186:Myotonia is the defining symptom of many
997:Lossin, Christoph; George AL jr (2008).
713:"Isaacs Syndrome - Neurologic Disorders"
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387:, further exacerbating the condition.
954:The Journal of Clinical Investigation
7:
1361:RESERVED, INSERM US14-- ALL RIGHTS.
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1587:Symptoms and signs: Nervous system
717:Merck Manuals Professional Edition
260:anaesthesia-induced rhabdomyolysis
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543:Neurology Secrets (Fifth Edition)
117:
25:
1234:"Potassium-aggravated myotonia"
675:10.1136/practneurol-2019-002224
539:"CHAPTER 26 - Electromyography"
375:Hyperkalemic periodic paralysis
230:hyperkalemic periodic paralysis
600:Kim, June-Bum (January 2014).
391:Hypokalemic periodic paralysis
53:add the appropriate references
1:
1007:10.1016/S0065-2660(08)01002-X
883:10.1016/s1097-2765(02)00572-5
842:10.1016/s1097-2765(02)00563-4
362:Potassium-aggravated myotonia
357:Potassium-aggravated myotonia
1419:10.1212/WNL.0000000000000892
1363:"Orphanet: Search a disease"
751:10.1007/978-3-642-92920-5_39
606:Korean Journal of Pediatrics
339:voltage-gated sodium channel
234:anterior horn cell disorders
38:reliable medical references
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1232:Reference, Genetics Home.
1150:10.1038/s41598-018-24719-y
1095:10.1016/j.ijgo.2009.01.031
1455:rarediseases.info.nih.gov
1324:10.1007/s10072-005-0461-x
1195:10.1007/s10072-005-0461-x
226:glycogen storage diseases
44:or relies too heavily on
432:Schwartz–Jampel syndrome
1238:Genetics Home Reference
618:10.3345/kjp.2014.57.1.1
487:10.1055/s-2008-1041228
454:Malignant hyperthermia
449:Neuromuscular medicine
327:Paramyotonia congenita
200:paramyotonia congenita
149:neuromuscular medicine
1312:Neurological Sciences
1183:Neurological Sciences
919:10.1002/mus.880070110
475:Seminars in Neurology
782:Journal of Neurology
1142:2018NatSR...8.6304G
663:Practical Neurology
301:Congenital myotonia
194:transport) such as
1273:10.1038/ng1092-148
1130:Scientific Reports
1040:Muscle & Nerve
999:Myotonia Congenita
907:Muscle & Nerve
794:10.1007/BF00316381
337:gene encoding the
310:myotonia congenita
295:Myotonia congenita
289:myotonia congenita
284:myotonic dystrophy
278:Myotonic dystrophy
204:myotonic dystrophy
196:myotonia congenita
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1413:(16): 1453–1463.
1052:10.1002/mus.20295
1016:978-0-12-374527-9
760:978-3-642-92920-5
602:"Channelopathies"
580:www.ninds.nih.gov
552:978-0-323-05712-7
347:action potentials
242:Hoffmann syndrome
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579:
556:, retrieved
542:
511:cite journal
481:(3): 244–8.
478:
474:
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394:
385:hyperkalemia
378:
365:
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323:phenotypes.
321:
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256:anaesthetics
253:
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105:
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62:
42:verification
35:
18:
1460:17 November
1372:17 November
1243:17 November
1089:(1): 62–3.
913:(1): 60–5.
612:(1): 1–18.
401:hypokalemia
192:ion channel
36:needs more
1581:Categories
1549:DiseasesDB
460:References
272:sarcolemma
78:newspapers
67:"Myotonia"
1560:SNOMED CT
1407:Neurology
1332:1590-1874
1281:1061-4036
1203:1590-3478
1136:(1): 13.
699:122401141
683:1474-7766
626:1738-1061
585:1 October
145:Neurology
140:Specialty
1480:myotonia
1437:25313375
1382:cite web
1348:27141272
1340:16193245
1297:12492661
1219:27141272
1211:16193245
1168:29674667
1111:22924091
1103:19368920
1060:15786415
1025:19185184
984:18008009
935:17368122
892:12150906
851:12150905
810:10804605
691:30996034
644:24578711
503:20602810
438:See also
416:muscular
381:HyperKPP
222:myositis
214:ion pump
169:Myotonia
134:Myotonia
1565:3434004
1543:D009222
1428:4206155
1289:1338909
1159:5908869
1138:Bibcode
1068:8336138
975:2075481
927:6700631
635:3935107
495:1947487
397:HypoKPP
258:called
92:scholar
57:removed
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766:28 May
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558:28 May
549:
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266:Causes
240:, and
155:
94:
87:
80:
73:
65:
1554:23079
1532:359.2
1517:G71.1
1485:NINDS
1344:S2CID
1293:S2CID
1215:S2CID
1107:S2CID
1064:S2CID
931:S2CID
806:S2CID
802:51920
695:S2CID
499:S2CID
422:Other
367:SCN4A
351:SCN4A
334:SCN4A
305:CLCN1
99:JSTOR
85:books
1538:MeSH
1527:9-CM
1462:2019
1433:PMID
1388:link
1374:2019
1336:PMID
1328:ISSN
1285:PMID
1277:ISSN
1245:2019
1207:PMID
1199:ISSN
1164:PMID
1099:PMID
1056:PMID
1021:PMID
1011:ISBN
980:PMID
923:PMID
888:PMID
847:PMID
798:PMID
768:2023
755:ISBN
724:2023
687:PMID
679:ISSN
640:PMID
622:ISSN
587:2019
560:2023
547:ISBN
521:link
517:link
491:PMID
244:.
202:and
71:news
40:for
1523:ICD
1508:ICD
1483:at
1423:PMC
1415:doi
1320:doi
1269:doi
1191:doi
1154:PMC
1146:doi
1091:doi
1087:106
1048:doi
1003:doi
970:PMC
962:doi
958:117
915:doi
878:doi
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