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myotonia

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myotonia
myotonia Path. (maɪəˈtəʊnɪə) [mod.L., f. myo- + Gr. τόν-ος tone n. + -ia1.] 1. The inability to relax voluntary muscle for a period following its use; any condition characterized by this.1898 Jrnl. Nerv. & Mental Dis. XXV. 509, I think it proper to assign all such cases to the one clinical category ... Oxford English Dictionary
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Myotonia
, (see myotonia congenita). Myotonia congenita (Congenital myotonia) of which two types called Becker's disease and Thomsen's disease exist. wikipedia.org
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Myotonia congenita
Adrenaline/epinephrine is well known to make myotonia worse in most individuals with the disorder, and a person with myotonia congenita may experience Autosomal recessive myotonia congenita (OMIM #255700) is also called generalized myotonia, recessive generalized myotonia (RGM), Becker disease, and Becker wikipedia.org
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myotonic
myotonic, a. Path. (maɪəˈtɒnɪk) [f. myo- + tonic a.] Producing, exhibiting, or characteristic of myotonia.1887 A. de Watteville tr. H. von Ziemssen's Handbk. Therap. VI. 213 The Myotonic Electrical Reaction. 1887 Jrnl. Nerv. & Mental Dis. XIV. 129 Those [cases] which, although showing the principal ... Oxford English Dictionary
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Potassium-aggravated myotonia
Potassium-aggravated myotonia may, in some cases, also cause paradoxical myotonia, in which myotonia becomes more severe at the time of movement instead Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness. wikipedia.org
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amyotonia
amyotonia, n. Path. (ˌeɪmaɪəˈtəʊnɪə) [f. a- 14 + myotonia n.] Lack of muscle tone; spec. (in full amyotonia congenita), any of several rare congenital diseases characterized by general hypotonia of the skeletal muscles.1907 Brain XXX. 146 (heading) Dr. James S. Collier.—A case of amyotonia congenita... Oxford English Dictionary
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Paramyotonia congenita
This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita, is Avoidance of myotonia triggering events is also an effective method of myotonia prevention. wikipedia.org
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Steinert
Steinert Path. (ˈʃtaɪnət) [The name of H. G. W. Steinert (b. 1875), German physician, who described the disease in 1909 (Deutsche Zeitschr. f. Nervenheilkunde XXXVII. 58).] Steinert's disease = myotonia atrophica s.v. myotonia 2 b.1932 Index Medicus XII. 429/1 (heading) Cachetic form of myotonia atr... Oxford English Dictionary
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Channelopathy
The channelopathies of human skeletal muscle include hyper- and hypokalemic (high and low potassium blood concentrations) periodic paralysis, myotonia However, it is pseudo-myotonia as those with Brody disease have normal EMG. wikipedia.org
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Myotonic dystrophy
Myotonia tends to be more prominent in DM1 compared to DM2. Functional loss of the chloride channel causes myotonia. wikipedia.org
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先天性肌強直 (myotonia congenita) - 漫談神經醫學
先天性肌強直是一種遺傳性的肌肉離子通道疾病， 該疾病的特徵是肌肉收縮後會延遲放鬆，又稱肌強直。 先天性肌強直有兩種形式。 1876年，一位丹麥醫師朱利葉斯·湯姆森（Julius Thomsen）首次描述了一種體染色體顯性遺傳形式，即湯姆森氏病。
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Dystrophy
neurovascular dystrophy Retinal dystrophy Cone dystrophy Corneal dystrophy Lipodystrophy Nail dystrophy See also Muscle weakness Muscle atrophy Myotonia wikipedia.org
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Brody myopathy
Electromyography (EMG) can be used in diagnosis to rule out myotonia, or muscle stiffness that is detected by EMG. Individuals with BD have stiff muscles but normal EMG results (pseudo-myotonia), where no myotonic discharges are detected. wikipedia.org
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Mexiletine
Medical uses Mexiletine has several uses including the treatment of abnormal heart rhythms or arrhythmias, chronic pain, and myotonia. The drug is sold under the trade name Mexitil for use in arrhythmias and NaMuscla for use in myotonia. wikipedia.org
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Nav1.4
It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. Myotonia The same types of mutations cause myotonia and paralysis, however the difference between these phenotypes depends on the level of sodium current wikipedia.org
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