Results 161 to 170 of about 3,302 (205)

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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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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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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Muscular Paralysis in Myotonia congenita

European Neurology, 1972
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 ...
K, Ricker, H M, Meinck
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Myotonia Congenita in Dizygotic Twins

European Neurology, 1972
A pair of dizygotic twins suffering from myotonia congenita born in Great Britain, is described. The twins were subjected to genetic, biochemical and electromyographic studies as were 5 relations in ...
M A, Ron, J, Pearce
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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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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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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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THOMSEN'S DISEASE (MYOTONIA CONGENITA)

Journal of the American Medical Association, 1933
About ten years ago (1922) one of us (S. E. J.) became acquainted through business channels with N. B., who lived several hours out of New York and who came under observation more as a friend than as a patient. Later, through the cooperation of Dr. Ziegler, an opportunity was afforded for a more detailed examination, and this preliminary report is ...
SMITH ELY JELLIFFE, LLOYD ZIEGLER
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QUININE IN MYOTONIA CONGENITA

Journal of the American Medical Association, 1938
In 1936 Wolf1reported startling effects of quinine in states of myotonia. He treated three siblings with myotonia congenita and one patient with myotonia atrophica with quinine and found that all myotonic manifestations disappeared. He reported that 10 grains (0.65 Gm.) of quinine dihydrochloride injected intravenously abolished every myotonic ...
Robert B. Lonergan, Harry A. Paskind
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