Results 151 to 160 of about 10,373 (189)

ECT IN MYOTONIA CONGENITA

American Journal of Psychiatry, 1962
This is presumed to be the first report of ECT successfully administered in a case of myotonia congenita, with and then without succinylcholine.
B, RIOUX, T, EVANGELISTA, G, ICENOGLE
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Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita [PDF]

Neuromuscular Disorders, 2008
Myotonia congenita is caused by mutations in the voltage-gated chloride channel ClC-1. It is more severe in men than women and often worsens during pregnancy, but the basis for these gender differences is not known.
Dimitri Kullmann, Doreen Fialho, Michael Hanna   +2 more
exaly   +1 more source

Myxedema, Pseudomyotonia, and Myotonia Congenita

Archives of Internal Medicine, 1958
For the student of neuromuscular disorders, the thyroid gland poses several unsolved problems. Thus, hyperthyroidism has been shown to be associated with myopathy and ophthalmoplegia and may be related in some manner to myasthenia gravis and periodic paralysis.1Similarly, the concurrence of hypothyroidism and muscle dysfunction has been noted ...
L W, JARCHO, F H, TYLER
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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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Acetazolamide‐responsive myotonia congenita

Neurology, 1987
We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing from most cases of autosomal dominant or recessive myotonia congenita. All patients had painful muscle stiffness that was provoked by fasting and oral potassium administration and was relieved by carbohydrate-containing foods. Muscle biopsies
R G, Trudell, K K, Kaiser, R C, Griggs
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Malignant hyperthermia in myotonia congenita

Neurology, 1988
We report a family in which two sisters with myotonia congenita (MyC) were referred for malignant hyperthermia (MH) evaluation after each developed muscle rigidity with anesthesia. Halothane contracture testing of skeletal muscle in both was consistent with MH susceptibility.
T, Heiman-Patterson, C, Martino, H, Rosenberg, J, Fletcher, A, Tahmoush   +4 more
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Muscular Paralysis in Myotonia congenita

European Neurology, 2008
While examining a patient with myotonia congenita, it was found that stimulation of the ulnar nerve with frequencies of 5 or 8 cps caused the amplitude of the muscle action potential to decrease rapidly to the base line. During the following lapse, the muscle was paralyzed.
K, Ricker, H M, Meinck
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Muscle pathology of myotonia congenita

Journal of the Neurological Sciences, 1976
We have investigated the muscle biopsies of 8 patients with myotonia congenita. There were 2 families with autosomal recessive inheritance (5 cases), 1 with autosomal dominant inheritance, and 2 sporadic cases. Mild abnormalities were seen with routine pathological preparations which were nondiagnostic.
J, Crews, K K, Kaiser, M H, Brooke
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Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine

Acta Paediatrica, International Journal of Paediatrics, 1992
A sporadic event of myotonia congenita in a infant admitted to the Paediatric Clinic for frequent crises of apnoea, cyanosis, vomiting and difficult feeding is reported.
Calevro L, ROSSI, BRUNO, SICILIANO, GABRIELE, Tarantino E., Ceccarelli M   +4 more
exaly   +1 more source