U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Batten-Turner congenital myopathy

MedGen UID:
10158
Concept ID:
C0027127
Disease or Syndrome
Synonym: Myotonia congenita
 
Related gene: CLCN1
 
Monarch Initiative: MONDO:0100468
OMIM®: 255300

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 description

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
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

Term Hierarchy

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
Moxley RT 3rd
Compr Ther 1996 Jan;22(1):8-21. PMID: 8654027
Zellweger H, Ionasescu V
Acta Neurol Scand Suppl 1973;55:5-28. PMID: 4518711

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
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
Lehmann-Horn F, Rüdel R
Curr Opin Neurol 1995 Oct;8(5):402-10. doi: 10.1097/00019052-199510000-00014. PMID: 8542048

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
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
Buchthal F
Muscle Nerve 1982;5(9S):S52-9. PMID: 6763149
Marmer MJ
Anesth Analg 1969 Jul-Aug;48(4):612-6. PMID: 4307407
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
Vivekanandam V, Ellmers R, Jayaseelan D, Houlden H, Männikkö R, Hanna MG
Brain 2023 Apr 19;146(4):1316-1321. doi: 10.1093/brain/awac431. PMID: 36382348
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
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
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
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
Nojszewska M, Lusakowska A, Gawel M, Sierdzinski J, Sulek A, Krysa W, Elert-Dobkowska E, Seroka A, Kaminska AM, Kostera-Pruszczyk A
J Electromyogr Kinesiol 2019 Dec;49:102362. Epub 2019 Oct 3 doi: 10.1016/j.jelekin.2019.102362. PMID: 31610484
Abraham A, Breiner A, Barnett C, Bril V, Katzberg HD
Muscle Nerve 2018 Jan;57(1):146-149. Epub 2017 Jul 31 doi: 10.1002/mus.25714. PMID: 28561926
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

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...