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85:. Stiffness occurs in skeletal muscles throughout the body. Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Potassium-aggravated myotonia may, in some cases, also cause paradoxical myotonia, in which myotonia becomes more severe at the time of movement instead of after movement has ceased. Unlike some other forms of
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gene alter the usual structure and function of sodium channels. The altered channels cannot properly regulate ion flow, increasing the movement of sodium ions into skeletal muscle cells. The influx of extra sodium ions triggers prolonged muscle contractions, which are the hallmark of myotonia.
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gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles contract and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged ions, including
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pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the
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gene from one affected parent. Other cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
73:) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness, often painful, that worsens after exercise and may be aggravated by eating
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protein forms channels that control the flow of sodium ions into these cells. Mutations in the
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This condition is inherited in an autosomal dominant manner
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96:gene cause potassium-aggravated myotonia. The
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167:: CS1 maint: numeric names: authors list (
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1219:Progressive symmetric erythrokeratodermia
144:"Orphanet: Potassium aggravated myotonia"
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1180:Keratitis–ichthyosis–deafness syndrome
999:Congenital absence of the vas deferens
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142:RESERVED, INSERM US14-- ALL RIGHTS.
850:Jervell and Lange-Nielsen syndrome
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105:, into skeletal muscle cells. The
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1260:Nephrogenic diabetes insipidus 2
648:Congenital insensitivity to pain
643:Paroxysmal extreme pain disorder
571:Hypokalemic periodic paralysis 2
422:Hypokalemic periodic paralysis 1
1152:Hypoplastic left heart syndrome
963:Thyrotoxic periodic paralysis 2
576:Hyperkalemic periodic paralysis
427:Thyrotoxic periodic paralysis 1
184:"Potassium-aggravated myotonia"
1214:Erythrokeratodermia variabilis
1166:Charcot–Marie–Tooth disease X1
870:Familial atrial fibrillation 3
775:Spinocerebellar ataxia type-13
761:Familial atrial fibrillation 7
528:Familial hemiplegic migraine 3
355:Familial hemiplegic migraine 1
1:
1060:Vitelliform macular dystrophy
586:Potassium-aggravated myotonia
365:Spinocerebellar ataxia type-6
59:Potassium-aggravated myotonia
22:Potassium-aggravated myotonia
1147:Hallermann–Streiff syndrome
1142:Oculodentodigital dysplasia
707:Pseudohypoaldosteronism 1AR
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182:Reference, Genetics Home.
1300:Musculoskeletal disorders
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323:Diseases of ion channels
925:Andersen–Tawil syndrome
188:Genetics Home Reference
1190:Bart–Pumphrey syndrome
581:Paramyotonia congenita
466:Malignant hyperthermia
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1115:Mucolipidosis type IV
660:Constitutively active
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1046:Osteopetrosis A2, B4
855:Romano–Ward syndrome
471:Central core disease
77:-rich foods such as
600:Long QT syndrome 10
54:myotonia figure.png
1195:Vohwinkel syndrome
1185:Ichthyosis hystrix
1074:Bartter syndrome 3
1018:Myotonia congenita
930:Long QT syndrome 7
911:Bartter syndrome 2
865:Long QT syndrome 1
822:Brugada syndrome 5
808:Long QT syndrome 6
794:Long QT syndrome 5
638:Febrile seizure 3B
619:Long QT syndrome 3
614:Brugada syndrome 1
552:Brugada syndrome 6
538:Febrile seizure 3A
441:Brugada syndrome 4
389:Long QT syndrome 8
384:Brugada syndrome 3
266:External resources
119:autosomal dominant
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193:30 September
191:. Retrieved
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153:30 September
151:. Retrieved
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1086:TRP channel
27:Other names
1289:Categories
1273:See also:
129:References
61:is a rare
75:potassium
1127:Connexin
275:Orphanet
163:cite web
87:myotonia
83:potatoes
71:myotonia
557:GEFS+ 1
533:GEFS+ 2
416:CACNA1S
397:CACNA1F
373:CACNA1C
349:CACNA1A
256:C538353
235:: G71.1
79:bananas
1109:TRPML1
1068:CLCNKB
957:KCNJ18
943:KCNJ11
701:SCNN1G
695:SCNN1B
689:SCNN1A
675:SCNN1G
669:SCNN1B
435:CACNB2
408:CSNB2A
245:608390
103:sodium
1245:Porin
1101:FSGS2
1095:TRPC6
1054:BEST1
1040:CLCN7
1026:CLCN5
1007:CLCN1
949:TNDM3
919:KCNJ2
905:KCNJ1
884:BFNS1
878:KCNQ2
844:KCNQ1
830:KCNH2
816:KCNE3
802:KCNE2
783:KCNE1
769:KCNC3
755:KCNA5
741:KCNA1
627:SCN9A
608:SCN5A
594:SCN4B
565:SCN4A
546:SCN1B
522:SCN1A
490:ARVD2
485:CPVT1
123:SCN4A
111:SCN4A
107:SCN4A
98:SCN4A
94:SCN4A
1254:AQP2
1227:GJB6
1208:GJB4
1204:GJB3
1174:GJB2
1160:GJB1
1136:GJA1
988:CFTR
479:RYR2
460:RYR1
251:MeSH
240:OMIM
195:2019
169:link
155:2019
81:and
280:612
228:ICD
30:PAM
1291::
278::
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232:10
186:.
165:}}
161:{{
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315:e
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301:v
230:-
220:D
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157:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
