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Congenital myotonia, autosomal dominant form(THD)

MedGen UID:
422446
Concept ID:
C2936781
Disease or Syndrome
Synonyms: Myotonia congenita autosomal dominant; THD; Thomsen disease; Thomsen's disease
SNOMED CT: Myotonia congenita (726051002); Congenital myotonia (726051002); Myotonia congenita - autosomal dominant form (57938005); Thomsen's disease (57938005); Thomsen myotonia congenita (57938005); Congenital myotonia, autosomal dominant form (57938005)
 
Gene (location): CLCN1 (7q34)
 
Monarch Initiative: MONDO:0008055
OMIM®: 160800

Disease characteristics

Excerpted from the GeneReview: Myotonia Congenita
Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life. [from GeneReviews]
Authors:
Morten Dunø  |  John Vissing   view full author information

Additional descriptions

From OMIM
Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction (Sun et al., 2001). Thomsen disease is less common and less severe than Becker disease. See also paramyotonia congenita (PMC; 168300) and potassium-aggravated myotonia (608390), overlapping phenotypes caused by mutations in the SCN4A gene (603967).  http://www.omim.org/entry/160800
From MedlinePlus Genetics
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect.

The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.  https://medlineplus.gov/genetics/condition/myotonia-congenita

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Muscle stiffness
MedGen UID:
113151
Concept ID:
C0221170
Sign or Symptom
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Myotonia
MedGen UID:
675119
Concept ID:
C0700153
Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Percussion myotonia
MedGen UID:
148293
Concept ID:
C0751359
Finding
A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
Handgrip myotonia
MedGen UID:
357016
Concept ID:
C1868623
Finding
Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Abnormal increase in muscle size and mass not due to training.
Myotonia with warm-up phenomenon
MedGen UID:
871108
Concept ID:
C4025575
Disease or Syndrome
Myotonia that occurs after a period of rest and decreases with continuing exercise.
EMG: myotonic runs
MedGen UID:
893078
Concept ID:
C4025576
Finding
Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).
Lid lag on downgaze
MedGen UID:
115966
Concept ID:
C0234664
Sign or Symptom
Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM
Muscle Nerve 2020 Oct;62(4):430-444. Epub 2020 May 27 doi: 10.1002/mus.26887. PMID: 32270509Free PMC Article
Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T
Clin Genet 2016 Sep;90(3):199-210. Epub 2016 Jun 2 doi: 10.1111/cge.12801. PMID: 27197572
Lehmann-Horn F, Jurkat-Rott K, Rüdel R; Ulm Muscle Centre
Acta Myol 2008 Dec;27(3):98-113. PMID: 19472919Free PMC Article

Recent clinical studies

Etiology

Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R
Brain 2022 Apr 18;145(2):607-620. doi: 10.1093/brain/awab344. PMID: 34529042Free PMC Article
Vivekanandam V, Munot P, Hanna MG, Matthews E
Neurol Clin 2020 Aug;38(3):481-491. doi: 10.1016/j.ncl.2020.04.003. PMID: 32703462
Jungbluth H, Ochala J, Treves S, Gautel M
Semin Cell Dev Biol 2017 Apr;64:191-200. Epub 2016 Aug 8 doi: 10.1016/j.semcdb.2016.08.004. PMID: 27515125
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies
Neuromuscul Disord 2014 Feb;24(2):97-116. Epub 2013 Nov 18 doi: 10.1016/j.nmd.2013.11.003. PMID: 24456932Free PMC Article
Finsterer J
Acta Neurol Scand 2008 Mar;117(3):145-58. Epub 2007 Nov 20 doi: 10.1111/j.1600-0404.2007.00963.x. PMID: 18031562

Diagnosis

Vicino A, Brugnoni R, Maggi L
Expert Rev Mol Diagn 2023 Jul-Dec;23(12):1175-1193. Epub 2023 Dec 15 doi: 10.1080/14737159.2023.2288258. PMID: 38009256
Vivekanandam V, Jayaseelan D, Hanna MG
Handb Clin Neurol 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6. PMID: 37562884
Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R
Brain 2022 Apr 18;145(2):607-620. doi: 10.1093/brain/awab344. PMID: 34529042Free PMC Article
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM
Muscle Nerve 2020 Oct;62(4):430-444. Epub 2020 May 27 doi: 10.1002/mus.26887. PMID: 32270509Free PMC Article
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG
F1000Res 2018;7 Epub 2018 Dec 11 doi: 10.12688/f1000research.16422.1. PMID: 30631434Free PMC Article

Therapy

Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM
Muscle Nerve 2020 Oct;62(4):430-444. Epub 2020 May 27 doi: 10.1002/mus.26887. PMID: 32270509Free PMC Article
Jungbluth H, Ochala J, Treves S, Gautel M
Semin Cell Dev Biol 2017 Apr;64:191-200. Epub 2016 Aug 8 doi: 10.1016/j.semcdb.2016.08.004. PMID: 27515125
Trip J, Drost G, van Engelen BG, Faber CG
Cochrane Database Syst Rev 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. PMID: 16437496Free PMC Article
Trudell RG, Kaiser KK, Griggs RC
Neurology 1987 Mar;37(3):488-91. doi: 10.1212/wnl.37.3.488. PMID: 3822145
Finkel MJ
Clin Ther 1984;6(5):577-91. PMID: 6383610

Prognosis

Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R
Genes (Basel) 2023 Jun 28;14(7) doi: 10.3390/genes14071363. PMID: 37510268Free PMC Article
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG
F1000Res 2018;7 Epub 2018 Dec 11 doi: 10.12688/f1000research.16422.1. PMID: 30631434Free PMC Article
Palma C, Prior C, Gómez-González C, Rodríguez-Antolin C, Martínez-Montero P, Pérez de Ayala L, Pascual SI, Molano Mateos J
Neuromuscul Disord 2017 Dec;27(12):1123-1125. Epub 2017 Sep 25 doi: 10.1016/j.nmd.2017.09.008. PMID: 29111379
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
Rüdel R, Ricker K, Lehmann-Horn F
Arch Neurol 1993 Nov;50(11):1241-8. doi: 10.1001/archneur.1993.00540110113011. PMID: 8215982

Clinical prediction guides

Elaraby NM, Ahmed HA, Dawoud H, Ashaat NA, Azmy A, Galal ER, Elhusseny Y, Awady HE, Metwally AM, Ashaat EA
Mol Biol Rep 2024 Jun 15;51(1):766. doi: 10.1007/s11033-024-09646-8. PMID: 38877370
Vivekanandam V, Männikkö R, Matthews E, Hanna MG
Expert Rev Mol Diagn 2020 Jul;20(7):725-736. Epub 2020 Jul 12 doi: 10.1080/14737159.2020.1782195. PMID: 32657178
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG
F1000Res 2018;7 Epub 2018 Dec 11 doi: 10.12688/f1000research.16422.1. PMID: 30631434Free PMC Article
Palma C, Prior C, Gómez-González C, Rodríguez-Antolin C, Martínez-Montero P, Pérez de Ayala L, Pascual SI, Molano Mateos J
Neuromuscul Disord 2017 Dec;27(12):1123-1125. Epub 2017 Sep 25 doi: 10.1016/j.nmd.2017.09.008. PMID: 29111379
Portaro S, Russo M, Naro A, Bramanti A, Bramanti P, Rodolico C, Calabrò RS
J Neurol Sci 2017 Apr 15;375:3-7. Epub 2017 Jan 12 doi: 10.1016/j.jns.2017.01.038. PMID: 28320154

Recent systematic reviews

Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R
Genes (Basel) 2023 Jun 28;14(7) doi: 10.3390/genes14071363. PMID: 37510268Free PMC Article
Trip J, Drost G, van Engelen BG, Faber CG
Cochrane Database Syst Rev 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. PMID: 16437496Free PMC Article

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