Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Non dystrophic myotonia

MedGen UID:: 741982
•Concept ID:: C1828221
•: Disease or Syndrome

Synonyms:	Non Dystrophic Myotonia; Non-Dystrophic Myotonia
SNOMED CT:	Non dystrophic myotonia (424795008)

Definition

A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNon dystrophic myotonia

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Myopathy
        Myotonic syndrome
        Non dystrophic myotonia
        Batten-Turner congenital myopathy
        Congenital myotonia, autosomal dominant form
        Congenital myotonia, autosomal recessive form
        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

Professional guidelines

PubMed

Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel.

Chapman AM, Schurer M, Weijers L, Omar A, Lee H, Weidenfeller AZ, Ellis C, Sonecha S, Schneider-Gold C
BMC Neurol 2021 Dec 1;21(1):467. doi: 10.1186/s12883-021-02491-3. PMID: 34852780 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Diagnostics in skeletal muscle channelopathies.

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

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Vereb N, Montagnese F, Gläser D, Schoser B
J Neurol 2021 May;268(5):1708-1720. Epub 2020 Dec 2 doi: 10.1007/s00415-020-10328-1. PMID: 33263785 Free PMC Article

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.

Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, Cortés Zepeda R, Escobar RG, Kleinsteuber Saa K, Lagos Lucero M, Avaria Benapres MLA, Padilla Pérez O, Casar Leturia JC, Mellado Sagredo C, Sternberg D
Neuromuscul Disord 2020 Jul;30(7):554-561. Epub 2020 May 19 doi: 10.1016/j.nmd.2020.04.006. PMID: 32593548

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium
Brain 2013 Jul;136(Pt 7):2189-200. Epub 2013 Jun 13 doi: 10.1093/brain/awt133. PMID: 23771340 Free PMC Article

A quantitative measure of handgrip myotonia in non-dystrophic myotonia.

Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ; CINCH Consortium
Muscle Nerve 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402. PMID: 22987687 Free PMC Article

See all (17)

Diagnosis

Diagnostics in skeletal muscle channelopathies.

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

Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.

Yuan JH, Higuchi Y, Hashiguchi A, Ando M, Yoshimura A, Nakamura T, Sakiyama Y, Takashima H
J Neurol 2022 Dec;269(12):6406-6415. Epub 2022 Jul 30 doi: 10.1007/s00415-022-11305-6. PMID: 35907044

Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.

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: 35644941 Free PMC Article

Skeletal Muscle Channelopathies.

Phillips L, Trivedi JR
Neurotherapeutics 2018 Oct;15(4):954-965. doi: 10.1007/s13311-018-00678-0. PMID: 30341599 Free PMC Article

What the internist should know about hereditary muscle channelopathies.

Bissay V, Van Malderen SCH
Acta Clin Belg 2018 Feb;73(1):1-6. Epub 2017 Oct 31 doi: 10.1080/17843286.2017.1396674. PMID: 29088983

See all (23)

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

Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

A quantitative measure of handgrip myotonia in non-dystrophic myotonia.

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J
Neuromuscul Disord 2009 May;19(5):330-4. Epub 2008 Mar 11 doi: 10.1016/j.nmd.2008.01.007. PMID: 18337100

See all (12)

Prognosis

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.

Bissay V, Van Malderen SC, Keymolen K, Lissens W, Peeters U, Daneels D, Jansen AC, Pappaert G, Brugada P, De Keyser J, Van Dooren S
Eur J Hum Genet 2016 Mar;24(3):400-7. Epub 2015 Jun 3 doi: 10.1038/ejhg.2015.125. PMID: 26036855 Free PMC Article

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, Soichot P, Huet F, Hainque B, Sternberg D, Fontaine B, Gouyon JB, Thauvin-Robinet C
Am J Med Genet A 2008 Feb 1;146A(3):380-3. doi: 10.1002/ajmg.a.32141. PMID: 18203179

See all (2)

Clinical prediction guides

Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Vereb N, Montagnese F, Gläser D, Schoser B
J Neurol 2021 May;268(5):1708-1720. Epub 2020 Dec 2 doi: 10.1007/s00415-020-10328-1. PMID: 33263785 Free PMC Article

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

An interactive voice response diary for patients with non-dystrophic myotonia.

Statland JM, Wang Y, Richesson R, Bundy B, Herbelin L, Gomes J, Trivedi J, Venance S, Amato A, Hanna M, Griggs R, Barohn RJ; Cinch Consortium
Muscle Nerve 2011 Jul;44(1):30-5. doi: 10.1002/mus.22007. PMID: 21674518 Free PMC Article

See all (11)

Recent systematic reviews

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Desaphy JF, Altamura C, Vicart S, Fontaine B
J Neuromuscul Dis 2021;8(3):357-381. doi: 10.3233/JND-200582. PMID: 33325393 Free PMC Article

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Non dystrophic myotonia

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

Related information

Recent activity