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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Myotonia of the upper limb

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal muscle physiology
      - Myotonia
        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: 25919300 Free 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

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

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

See all (8)

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

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

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

See all (22)

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: 31466972 Free 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

See all (11)

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: 25919300 Free 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

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

See all (6)

Clinical prediction guides

Tissue Doppler ultrasound of arm muscles to assess myotonia in myotonic dystrophies: An exploratory study.

Svačina MKR, Sprenger-Svačina A, Kohle F, Wunderlich G, Lehmann HC, Schneider C
Muscle Nerve 2024 Nov;70(5):954-962. Epub 2024 Aug 13 doi: 10.1002/mus.28229. PMID: 39136612

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: 25919300 Free PMC Article

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

See all (10)

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Myotonia of the upper limb

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

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