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Congenital myotonia, autosomal recessive form

MedGen UID:
155852
Concept ID:
C0751360
Disease or Syndrome
Synonyms: Becker disease; Becker Generalized Myotonia; Becker's disease; Myotonia congenita autosomal recessive; Myotonia generalized
SNOMED CT: Becker myotonia congenita (20305008); Myotonia congenita - autosomal recessive form (20305008); Congenital myotonia, autosomal recessive form (20305008)
 
Gene (location): CLCN1 (7q34)
 
Monarch Initiative: MONDO:0009715
OMIM®: 255700

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 recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness (Koch et al., 1993). Becker disease is more common and more severe than Thomsen disease.  http://www.omim.org/entry/255700
From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/myotonia-congenita

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
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).
Muscle hypertrophy of the lower extremities
MedGen UID:
376851
Concept ID:
C1850663
Finding
Muscle hypertrophy primarily affecting the legs.
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
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

Recent clinical studies

Etiology

Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
Vivekanandam V, Munot P, Jayaseelan DL
Handb Clin Neurol 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2. PMID: 39174243
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
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

Diagnosis

Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
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
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
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

Therapy

Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
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
Finkel MJ
Clin Ther 1984;6(5):577-91. PMID: 6383610
Bush GH
Proc R Soc Med 1968 Feb;61(2):171-4. PMID: 4230059Free PMC Article

Prognosis

Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
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
Andersen G, Løkken N, Vissing J
Muscle Nerve 2017 Oct;56(4):696-699. Epub 2017 Mar 23 doi: 10.1002/mus.25549. PMID: 28039888

Clinical prediction guides

Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
Öz Tunçer G, Sanri A, Aydin S, Hergüner ÖM, Özgün N, Kömür M, İçağasioğlu DF, Toker RT, Yilmaz S, Arslan EA, Güngör M, Kutluk G, Erol İ, Mert GG, Polat BG, Aksoy A
J Neuromuscul Dis 2023;10(5):915-924. doi: 10.3233/JND-230046. PMID: 37355912Free PMC Article
Fullam TR, Chandrashekhar S, Farmakidis C, Jawdat O, Pasnoor M, Dimachkie MM, Statland JM; CINCH Consortium
Muscle Nerve 2022 Aug;66(2):148-158. Epub 2022 Jun 16 doi: 10.1002/mus.27649. PMID: 35644941Free PMC Article
Li Y, Li M, Wang Z, Yang F, Wang H, Bai X, Sun B, Chen S, Huang X
Channels (Austin) 2022 Dec;16(1):35-46. doi: 10.1080/19336950.2022.2041292. PMID: 35170402Free 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

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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