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The inherited myotonias are a complex group of diseases caused by variations in genes that encode or modulate the expression of ion channels that regulate muscle excitability. These variations alter muscle membrane excitability allowing mild depolarization, causing myotonic discharges.
Karen, Suetterlin +2 more
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Karen, Suetterlin +2 more
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Effects of acetazolamide on myotonia
Annals of Neurology, 1978AbstractMyotonia can occur in the periodic paralyses, particularly the hyperkalemic form. The beneficial response to acetazolamide in hypokalemic and hyperkalemic periodic paralysis has led us to study the effect of acetazolamide in 9 patients with disorders having myotonia as the major problem, 7 with myotonia congenita and 2 with paramyotonia ...
R C, Griggs +3 more
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A.M.A. Archives of Neurology & Psychiatry, 1952
ELECTROMYOGRAPHIC 1 investigations of the myotonias reveal a dramatic and pathognomonic picture. Thus, in patients with myotonia congenita (Thomsen's disease), dystrophia myotonica (myotonia atrophica), and myotonia acquisita (Talma's disease) 2 we have found identical abnormal action potentials generated in the skeletal musculature.
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ELECTROMYOGRAPHIC 1 investigations of the myotonias reveal a dramatic and pathognomonic picture. Thus, in patients with myotonia congenita (Thomsen's disease), dystrophia myotonica (myotonia atrophica), and myotonia acquisita (Talma's disease) 2 we have found identical abnormal action potentials generated in the skeletal musculature.
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Myotonia Congenita with “Delayed Myotonia.”
Proceedings of the Royal Society of Medicine, 1960V, DUBOWITZ, D, LAWSON
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Relief of myotonia by dantrolene in experimental myotonia
Experimental Neurology, 1978A, Eberstein, J, Goodgold
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Archives of Neurology, 1975
The muscle membrane in myotonia congenita is characterized by a normal resting potential with a greatly increased resting resistance usually attributed to a decrease in membrane chloride permeability (PC1). In this report, the hypothesis that decreased PC1 alone can account for the repetitive action potentials of myotonia is tested with a mathematical ...
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The muscle membrane in myotonia congenita is characterized by a normal resting potential with a greatly increased resting resistance usually attributed to a decrease in membrane chloride permeability (PC1). In this report, the hypothesis that decreased PC1 alone can account for the repetitive action potentials of myotonia is tested with a mathematical ...
openaire +2 more sources