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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

Authors:

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
Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ
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Moxley RT 3rd
Compr Ther 1996 Jan;22(1):8-21. PMID: 8654027

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

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
Yanagita Y, Shikino K, Ikusaka M
BMJ Case Rep 2021 May 6;14(5) doi: 10.1136/bcr-2020-240779. PMID: 33958356Free 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
Glasberg MR
Neurosurgery 1979 Dec;5(6):747-58. doi: 10.1227/00006123-197912000-00017. PMID: 392333

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
Fuseya Y, Ishikawa N, Sasaki R, Yamashita H
Neurology 2022 Jan 18;98(3):e328. Epub 2021 Oct 21 doi: 10.1212/WNL.0000000000013010. PMID: 34675092
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
Mehta MP, Gergis SD, Sokoll MD
Middle East J Anaesthesiol 1985 Feb;8(1):49-63. PMID: 3892237
Buchthal F
Muscle Nerve 1982;5(9S):S52-9. PMID: 6763149

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
Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Valle GD, Bermúdez-Guzmán L, Bertelli S, Pusch M, Morales F
Cells 2021 Feb 11;10(2) doi: 10.3390/cells10020374. PMID: 33670307Free PMC Article
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
Waldegger S, Jentsch TJ
J Am Soc Nephrol 2000 Jul;11(7):1331-1339. doi: 10.1681/ASN.V1171331. PMID: 10864591
Streib EW
Muscle Nerve 1987 Sep;10(7):603-15. doi: 10.1002/mus.880100704. PMID: 3309651

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
Nojszewska M, Lusakowska A, Gawel M, Sierdzinski J, Sulek A, Krysa W, Elert-Dobkowska E, Seroka A, Kaminska AM, Kostera-Pruszczyk A
Neurol Neurochir Pol 2022;56(5):399-403. Epub 2022 Jul 6 doi: 10.5603/PJNNS.a2022.0051. PMID: 35792560
Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Valle GD, Bermúdez-Guzmán L, Bertelli S, Pusch M, Morales F
Cells 2021 Feb 11;10(2) doi: 10.3390/cells10020374. PMID: 33670307Free PMC Article
Rosenbaum HK, Miller JD
Anesthesiol Clin North Am 2002 Sep;20(3):623-664. doi: 10.1016/s0889-8537(02)00011-1. PMID: 12298310

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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