Myotonic syndrome

MedGen UID:: 107510
•Concept ID:: C0553604
•: Disease or Syndrome

Synonym:	Myotonic disorder
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]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMyotonic syndrome

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Myopathy
        Myotonic syndrome
        Batten-Turner congenital myopathy
        Congenital myotonia, autosomal dominant form
        Congenital myotonia, autosomal recessive form
        Myotonic dystrophy
        Congenital myotonic dystrophy
        Myotonic cataract
        Myotonic dystrophy type 2
        Steinert myotonic dystrophy syndrome
        Adult-onset Steinert myotonic dystrophy
        Childhood-onset Steinert myotonic dystrophy
        Congenital-onset Steinert myotonic dystrophy
        Juvenile-onset Steinert myotonic dystrophy
        Late-onset Steinert myotonic dystrophy
        Non dystrophic myotonia
        Familial normokalemic periodic paralysis
        Laryngospasm, severe neonatal episodic
        Paramyotonia congenita of Von Eulenburg
        Paramyotonia Congenita without Cold Paralysis
        Potassium-aggravated myotonia
        Acetazolamide-responsive myotonia
        Myotonia fluctuans
        Myotonia permanens

Follow this link to review classifications for Myotonic syndrome in Orphanet.

Professional guidelines

PubMed

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

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

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Recent clinical studies

Diagnosis

EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.

Horie R, Kubota T, Koh J, Tanaka R, Nakamura Y, Sasaki R, Ito H, Takahashi MP
Muscle Nerve 2020 Jun;61(6):808-814. Epub 2020 Mar 17 doi: 10.1002/mus.26849. PMID: 32129495

Clinical electrophysiology of muscle diseases and episodic muscle disorders.

Fournier E, Tabti N
Handb Clin Neurol 2019;161:269-280. doi: 10.1016/B978-0-444-64142-7.00053-9. PMID: 31307605

Myotonia levior: contribution to the nosography.

Siciliano G, Risaliti R, Vignocchi G, Rossi B
Riv Neurol 1988 Sep-Oct;58(5):204-9. PMID: 3231989

A myotonic syndrome associated with Klinefelter's syndrome.

Woollacott S, Pearce J
J Med Genet 1967 Dec;4(4):299-301. doi: 10.1136/jmg.4.4.299. PMID: 6082911 Free PMC Article

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Therapy

Blockers of Skeletal Muscle Na(v)1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back.

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: 36614292 Free PMC Article

Neurologic complications after gastric restriction surgery for morbid obesity.

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

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