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Myotonic syndrome

MedGen UID:
107510
Concept ID:
C0553604
Disease or Syndrome
Synonyms: Disorder, Myotonic; Disorders, Myotonic; Myopathies, Myotonic; Myopathy, Myotonic; Myotonic Disorder; Myotonic Disorders; Myotonic Myopathies; Myotonic Myopathy
SNOMED CT: Myotonic disorder (193237003)
 
Monarch Initiative: MONDO:0016120
Orphanet: ORPHA206970

Definition

An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy. [from NCI]

Professional guidelines

PubMed

Rasing NB, van de Geest-Buit WA, Chan OYA, Mul K, Lanser A, van Engelen BGM, Erasmus CE, Fischer AH, Ingels KJAO, Post B, Siemann I, Groothuis JT, Voermans NC
J Neuromuscul Dis 2024;11(3):535-565. doi: 10.3233/JND-230213. PMID: 38517799Free PMC Article
Rasing NB, van de Geest-Buit W, Chan OYA, Mul K, Lanser A, Erasmus CE, Groothuis JT, Holler J, Ingels KJAO, Post B, Siemann I, Voermans NC
Disabil Rehabil 2024 Aug;46(17):3772-3791. Epub 2023 Sep 26 doi: 10.1080/09638288.2023.2259310. PMID: 37752723
Plassart E, Eymard B, Maurs L, Hauw JJ, Lyon-Caen O, Fardeau M, Fontaine B
J Neurol Sci 1996 Oct;142(1-2):126-33. doi: 10.1016/0022-510x(96)00173-6. PMID: 8902732

Recent clinical studies

Therapy

De Bellis M, Boccanegra B, Cerchiara AG, Imbrici P, De Luca A
Int J Mol Sci 2023 Jan 3;24(1) doi: 10.3390/ijms24010857. PMID: 36614292Free PMC Article
Abarbanel JM, Berginer VM, Osimani A, Solomon H, Charuzi I
Neurology 1987 Feb;37(2):196-200. doi: 10.1212/wnl.37.2.196. PMID: 3027610

Prognosis

Barchi RL
Electroencephalogr Clin Neurophysiol Suppl 1978;(34):559-70. PMID: 285855

Clinical prediction guides

Barchi RL
Electroencephalogr Clin Neurophysiol Suppl 1978;(34):559-70. PMID: 285855

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

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