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Myotonia of the lower limb

MedGen UID:
868290
Concept ID:
C4022684
Finding
HPO: HP:0012902

Definition

Slowed relaxation of muscles in the leg. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyotonia of the lower limb

Recent clinical studies

Etiology

Roy B, Wu Q, Whitaker CH, Felice KJ
J Clin Neuromuscul Dis 2021 Mar 1;22(3):135-146. doi: 10.1097/CND.0000000000000340. PMID: 33595997
Maggi L, Brugnoni R, Canioni E, Maccagnano E, Bernasconi P, Morandi L
Acta Myol 2015 Dec;34(2-3):109-15. PMID: 27199537Free PMC Article
Mallineni SK, Yiu CK, King NM
Spec Care Dentist 2012 Jun;32(3):105-11. Epub 2012 Apr 26 doi: 10.1111/j.1754-4505.2012.00249.x. PMID: 22591433
Begam MA, Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM
Ultrasound Obstet Gynecol 2011 Nov;38(5):553-8. doi: 10.1002/uog.8967. PMID: 21337444
Logigian EL, Ciafaloni E, Quinn LC, Dilek N, Pandya S, Moxley RT 3rd, Thornton CA
Muscle Nerve 2007 Apr;35(4):479-85. doi: 10.1002/mus.20722. PMID: 17230537

Diagnosis

Hamel J, Creigh PD, Dekdebrun J, Eichinger K, Thornton CA
Muscle Nerve 2022 Sep;66(3):336-339. Epub 2022 Apr 28 doi: 10.1002/mus.27559. PMID: 35426155
Symonds T, Campbell P, Randall JA
Muscle Nerve 2017 Jul;56(1):78-85. Epub 2017 Mar 1 doi: 10.1002/mus.25468. PMID: 27862025
Witting N, Werlauff U, Duno M, Vissing J
Muscle Nerve 2016 Mar;53(3):388-93. Epub 2015 Aug 13 doi: 10.1002/mus.24765. PMID: 26172852
Mallineni SK, Yiu CK, King NM
Spec Care Dentist 2012 Jun;32(3):105-11. Epub 2012 Apr 26 doi: 10.1111/j.1754-4505.2012.00249.x. PMID: 22591433
Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J
Neuromuscul Disord 2009 May;19(5):330-4. Epub 2008 Mar 11 doi: 10.1016/j.nmd.2008.01.007. PMID: 18337100

Therapy

Kitsis EA, Napier F, Juthani V, Geyer HL
BMJ Case Rep 2019 Aug 28;12(8) doi: 10.1136/bcr-2019-229611. PMID: 31466972Free PMC Article
Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J
Neuromuscul Disord 2009 May;19(5):330-4. Epub 2008 Mar 11 doi: 10.1016/j.nmd.2008.01.007. PMID: 18337100
Logigian EL, Ciafaloni E, Quinn LC, Dilek N, Pandya S, Moxley RT 3rd, Thornton CA
Muscle Nerve 2007 Apr;35(4):479-85. doi: 10.1002/mus.20722. PMID: 17230537
Ren M, Yang R
Chin Med J (Engl) 1997 Sep;110(9):694-7. PMID: 9642327
Meythaler JM, DeVivo MJ, Hadley M
Arch Phys Med Rehabil 1996 May;77(5):461-6. doi: 10.1016/s0003-9993(96)90034-9. PMID: 8629922

Prognosis

Witting N, Werlauff U, Duno M, Vissing J
Muscle Nerve 2016 Mar;53(3):388-93. Epub 2015 Aug 13 doi: 10.1002/mus.24765. PMID: 26172852
Mallineni SK, Yiu CK, King NM
Spec Care Dentist 2012 Jun;32(3):105-11. Epub 2012 Apr 26 doi: 10.1111/j.1754-4505.2012.00249.x. PMID: 22591433
Trip J, Pillen S, Faber CG, van Engelen BG, Zwarts MJ, Drost G
Neuromuscul Disord 2009 Jul;19(7):462-7. Epub 2009 Jun 21 doi: 10.1016/j.nmd.2009.06.369. PMID: 19540760
Logigian EL, Ciafaloni E, Quinn LC, Dilek N, Pandya S, Moxley RT 3rd, Thornton CA
Muscle Nerve 2007 Apr;35(4):479-85. doi: 10.1002/mus.20722. PMID: 17230537
Ren M, Yang R
Chin Med J (Engl) 1997 Sep;110(9):694-7. PMID: 9642327

Clinical prediction guides

Roy B, Wu Q, Whitaker CH, Felice KJ
J Clin Neuromuscul Dis 2021 Mar 1;22(3):135-146. doi: 10.1097/CND.0000000000000340. PMID: 33595997
Bozovic I, Peric S, Pesovic J, Bjelica B, Brkusanin M, Basta I, Bozic M, Sencanic I, Marjanovic A, Brankovic M, Savic-Pavicevic D, Rakocevic-Stojanovic V
J Neuromuscul Dis 2018;5(4):461-469. doi: 10.3233/JND-180328. PMID: 30248060
Witting N, Werlauff U, Duno M, Vissing J
Muscle Nerve 2016 Mar;53(3):388-93. Epub 2015 Aug 13 doi: 10.1002/mus.24765. PMID: 26172852
Moon IS, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS
J Korean Med Sci 2009 Dec;24(6):1038-44. Epub 2009 Nov 9 doi: 10.3346/jkms.2009.24.6.1038. PMID: 19949657Free PMC Article
Ren M, Yang R
Chin Med J (Engl) 1997 Sep;110(9):694-7. PMID: 9642327

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