WordNet

abnormally long muscular contractions; slow relaxation of a muscle after a contraction

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1. 筋強直性ジストロフィー：病因、臨床的特徴、および診断 myotonic dystrophy etiology clinical features and diagnosis
2. 筋電図検査の概要 overview of electromyography
3. 神経筋接合部の電気診断学的評価 electrodiagnostic evaluation of the neuromuscular junction

[Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].

Li W1, Chen Q, Zhang Q, Li X, Du J.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2016 Apr;33(2):131-4. doi: 10.3760/cma.j.issn.1003-9406.2016.02.001.
OBJECTIVE: To detect SCN4A gene mutation in a pedigree with paramyotonia congenita in order to facilitate genetic counseling and assisted reproduction.METHODS: Clinical data of the family was collected. DNA was extracted from peripheral blood samples. Potential mutation of the SCN4A gene was screene
PMID 27060299

Hahn C1, Salajegheh MK1.
Iranian journal of neurology.Iran J Neurol.2016 Jan 5;15(1):46-53.
The myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. The presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some fo
PMID 27141276

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.

Mankodi A1, Grunseich C2, Skov M3, Cook L4, Aue G4, Purev E4, Bakar D2, Lehky T5, Jurkat-Rott K6, Pedersen TH3, Childs RW4.
Neuromuscular disorders : NMD.Neuromuscul Disord.2015 Nov;25(11):908-12. doi: 10.1016/j.nmd.2015.08.007. Epub 2015 Aug 20.
We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of
PMID 26494408

A Novel Mutation in the SCN4A Gene in a Japanese Family with Paramyotonia Congenita

高橋悟,山本志保,田中亮介,岡山亜貴恵,荒木章子,梶野浩樹,東寛
Journal of Neurology & Neurophysiology 5(5), 1-3, 2014-09
Paramyotoniacongenita is an autosomal-dominant muscle disease caused by missense mutations in SCN4A, the gene enconding the alpha subunit of skeletal muscle sodium channel. It is clinically characteri …
NAID 120005567843

滋賀健介,水田依久子,能登祐一,中川正法,佐々木良元,山脇正永
臨床神経学 54(5), 434-439, 2014
症例は73歳の男性である．2歳頃から2週間持続する下肢脱力発作をくりかえしていたが，CK高値のため入院した．下肢近位筋の筋力低下・眼瞼ミオトニーをみとめた．針筋電図でミオトニー放電をみとめ，prolonged exercise test陽性であった．発端者で，筋特異的電位依存性ナトリウムチャネルαサブユニット遺伝子（SCN4A）のヘテロ接合変異（M1592V）をみとめた．家系解析で本変異と脱力発作 …
NAID 130004505584