Results 131 to 140 of about 1,313 (165)

Distinguishing paramyotonia congenita and myotonia congenita by electromyography

Muscle & Nerve, 1983
AbstractCompound muscle action potential (CMAP) amplitudes, response to 2 Hz nerve stimulation, response to exercise and electromyographic needle electrode examination findings from the thenar muscles of two patients with paramyotonia congenita were compared with those from two patients with dominantly inherited myotonia congenita in warm (34°C) and ...
S H, Subramony, C P, Malhotra, S K, Mishra   +2 more
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Linkage studies of Myotonia congenita and Paramyotonia congenita

Clinical Genetics, 1989
Six German families segregating for Myotonia congenita (MC) and eight families from Germany and Great Britain with Paramyotonia congenita (PC) were tested for linkage relationships using 35 serological and biochemical markers. No linkage of MC to any of the markers was evident, but a positive sum of lod scores for PC vs.
K, Bender, H, Senff, A, Steiert, H, Lagodny, T F, Wienker, M, Koch   +5 more
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A SCN4A mutation causing paramyotonia congenita

Neuromuscular Disorders, 2017
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMIM 170500, 613345).
Carmen, Palma, Carmen, Prior, Clara, Gómez-González, Carlos, Rodríguez-Antolin, Paloma, Martínez-Montero, Lucía, Pérez de Ayala, Samuel I, Pascual, Jesús, Molano Mateos   +7 more
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Acetazolamide-Induced Weakness in Paramyotonia Congenita

Annals of Internal Medicine, 1977
Acetazolamide has been shown to be effective prophylaxis for both hypokalemic and hyperkalemic paralysis. A patient with paramyotonia congenita, a related disorder with myotonia and episodic weakness, was studied during treatment with acetazolamide. Athough the patient's myotonia was virtually abolished, severe quadriparesis was produced during each ...
J E, Riggs, R C, Griggs, R T, Moxley
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Efficacy of propafenone in paramyotonia congenita

Neurology, 2007
Paramyotonia congenita (PC) is an autosomal dominant condition with high penetrance linked to SCN4A .1 It is characterized by myotonic stiffness that paradoxically worsens with repeated contractions and with exposure to cold and by episodes of spontaneous or cold-induced paralysis.
Alfonsi E, Merlo IM, Brugnoni R, Gozzini A, TONINI, MARCELLO, RAVAGLIA, SABRINA MARIA, MOGLIA, ARRIGO   +6 more
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Paramyotonia congenita

Journal of Neurology, 1979
The present paper describes the clinical, electrophysiological and histological findings made in 12 patients belonging to 2 genealogical lineages in Switzerland, suffering from paramyotonia congenita. This is the first report of this disease in Switzerland.
E, Wegmüller, H P, Ludin, M, Mumenthaler   +2 more
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[Eulenburg's paramyotonia congenita].

Revue neurologique, 2008
Paramyotonia congenita is an autosomal dominant sodium channelopathy, caused by mutations in gene coding for muscle voltage-gated sodium channel alpha subunit.We report the case of a 38-year-old man who described since childhood muscle stiffness with attacks ok weakness induced by two provocative stimuli: cold exposure and exercise.
M, Sallansonnet-Froment, P, Bounolleau, T, De Greslan, D, Ricard, H, Taillia, J-L, Renard   +5 more
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Electromyographic distinction between paramyotonia congenita and myotonia congenita

Neurology, 1982
We studied three patients with paramyotonia congenita and three with myotonia congenita. At room temperature myotonic bursts in the EMG were similar in the two disorders. After repetitive maximal contractions, patients with paramyotonia showed decreasing recruitment pattern and increasing after-activity, while myotonia patients showed unchanged ...
V K, Nielsen, M L, Friis, T, Johnsen
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Temperature-sensitive repetitive discharges in paramyotonia congenita

Muscle & Nerve, 1997
A 47-year-old female with paramyotonia congenita was studied with electromyography and showed minimal myotonic discharges but prominent repetitive discharges in hand muscles at room temperature. With cooling the hand, the repetitive discharges ceased as the myotonic potentials became prominent. With exercise and further cooling, the myotonic discharges
M D, Weiss, R F, Mayer
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Pyloromyotomy in a Patient with Paramyotonia Congenita

Anesthesia & Analgesia, 2004
A 2-mo-old infant with paramyotonia congenita was scheduled for pyloromyotomy and repair of inguinal hernia. Diagnosis of paramyotonia congenita was done with positive family history, myotonia at eyelids, provocation by cold, and electromyogram analysis.
Binnaz, Ay, Arzu, Gerçek, Varlk I, Doğan, Gürsu, Kyan, Ylmaz F, Göğüş   +4 more
openaire   +2 more sources