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Myotonia of the upper limb

MedGen UID:
868289
•Concept ID:
C4022683
•
Finding
HPO: HP:0012903

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Myotonia of the upper limb

Recent clinical studies

Etiology

Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1.
Sugie K, Sugie M, Taoka T, Tonomura Y, Kumazawa A, Izumi T, Kichikawa K, Ueno S
PLoS One 2015;10(4):e0125051. Epub 2015 Apr 28 doi: 10.1371/journal.pone.0125051. PMID: 25919300Free PMC Article
Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones.
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
Multidisciplinary approach to the treatment of a patient with chondrodystrophic myotonia (Schwartz-Jampel vel Aberfeld syndrome): case report and literature review.
Nessler M, Puchala J, Kwiatkowski S, Kobylarz K, Mojsa I, Chrapusta-Klimeczek A
Ann Plast Surg 2011 Sep;67(3):315-9. doi: 10.1097/SAP.0b013e3181fac1ec. PMID: 21263291
Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes.
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
Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy.
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

Remote assessment of myotonic dystrophy type 1: A feasibility study.
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
A review of muscle- and performance-based assessment instruments in DM1.
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
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
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
Congenital myasthenic syndrome caused by mutations in DPAGT.
Klein A, Robb S, Rushing E, Liu WW, Belaya K, Beeson D
Neuromuscul Disord 2015 Mar;25(3):253-6. Epub 2014 Nov 26 doi: 10.1016/j.nmd.2014.11.013. PMID: 25500013
Electromechanical delay components during relaxation after voluntary contraction: reliability and effects of fatigue.
Cè E, Rampichini S, Venturelli M, Limonta E, Veicsteinas A, Esposito F
Muscle Nerve 2015 Jun;51(6):907-15. Epub 2015 Apr 24 doi: 10.1002/mus.24466. PMID: 25256098

Therapy

Association of Sjögren's syndrome with myotonic dystrophy type 1.
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
Effects of hand-training in persons with myotonic dystrophy type 1--a randomised controlled cross-over pilot study.
Aldehag A, Jonsson H, Lindblad J, Kottorp A, Ansved T, Kierkegaard M
Disabil Rehabil 2013 Oct;35(21):1798-807. Epub 2013 Mar 12 doi: 10.3109/09638288.2012.754952. PMID: 23480644
Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy.
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
Effects of a hand training programme in five patients with myotonic dystrophy type 1.
Aldehag AS, Jonsson H, Ansved T
Occup Ther Int 2005;12(1):14-27. doi: 10.1002/oti.12. PMID: 15962697
Quantitative testing of handgrip strength, myotonia, and fatigue in myotonic dystrophy.
Torres C, Moxley RT, Griggs RC
J Neurol Sci 1983 Jul;60(1):157-68. doi: 10.1016/0022-510x(83)90135-1. PMID: 6875612

Prognosis

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
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
Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1.
Sugie K, Sugie M, Taoka T, Tonomura Y, Kumazawa A, Izumi T, Kichikawa K, Ueno S
PLoS One 2015;10(4):e0125051. Epub 2015 Apr 28 doi: 10.1371/journal.pone.0125051. PMID: 25919300Free PMC Article
Effects of hand-training in persons with myotonic dystrophy type 1--a randomised controlled cross-over pilot study.
Aldehag A, Jonsson H, Lindblad J, Kottorp A, Ansved T, Kierkegaard M
Disabil Rehabil 2013 Oct;35(21):1798-807. Epub 2013 Mar 12 doi: 10.3109/09638288.2012.754952. PMID: 23480644
Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy.
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
Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1.
Logigian EL, Moxley RT 4th, Blood CL, Barbieri CA, Martens WB, Wiegner AW, Thornton CA, Moxley RT 3rd
Neurology 2004 Apr 13;62(7):1081-9. doi: 10.1212/01.wnl.0000118206.49652.a3. PMID: 15079005

Clinical prediction guides

The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1.
Baldanzi S, Ricci G, Bottari M, Chico L, Simoncini C, Siciliano G
Arch Ital Biol 2017 Jul 1;155(1-2):43-53. doi: 10.12871/000398292017125. PMID: 28715597
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
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
Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1.
Sugie K, Sugie M, Taoka T, Tonomura Y, Kumazawa A, Izumi T, Kichikawa K, Ueno S
PLoS One 2015;10(4):e0125051. Epub 2015 Apr 28 doi: 10.1371/journal.pone.0125051. PMID: 25919300Free PMC Article
Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes.
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
Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy.
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

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