Results 181 to 190 of about 17,131 (226)
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Myotonic dystrophy in the neonate
The Journal of Pediatrics, 1972A male infant born at term to a mother with myotonic dystrophy had sufficient evidence of the disease to enable the diagnosis to be made on the first day of postnatal life. Clinical manifestations included profound hypotonia, feeble respiratory efforts, elevation of the right hemidiaphragm, decreased muscle mass in the lower extremities, hirsutism of ...
D B, Bell, D W, Smith
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Archives of Neurology, 1993
The myotonic dystrophy gene codes for a protein kinase and contains a repeated trinucleotide motif (adenine-guanine-cytosine [AGC]) in its transcribed sequence. The repeat is polymorphic in the general population, varying in size from five to 37 AGC units in normal alleles.
A, Pizzuti, D L, Friedman, C T, Caskey
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The myotonic dystrophy gene codes for a protein kinase and contains a repeated trinucleotide motif (adenine-guanine-cytosine [AGC]) in its transcribed sequence. The repeat is polymorphic in the general population, varying in size from five to 37 AGC units in normal alleles.
A, Pizzuti, D L, Friedman, C T, Caskey
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Myotonic dystrophy and hyperthyroidism
Neurology, 1981The association of myotonic dystrophy and hyperthyroidism is rare. In the first such case in Japan, hyperthyroidism induced severe exacerbation of muscle weakness, which improved when the thyroid disorder was treated.
T, Okuno +4 more
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Hyperglucagonemia in Myotonic Dystrophy
The Journal of Clinical Endocrinology & Metabolism, 1981To clarify the possible participation of glucagon in glucose intolerance in myotonic dystrophy, six patients with myotonic dystrophy were examined. Three of the six patients had abnormal oral glucose tolerance curves; two had frank diabetic glucose tolerance curves, and the other had a high glucose value 30 min after glucose loading, which fell beyond ...
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Continuum, 2019
This article describes the clinical features, pathogenesis, prevalence, diagnosis, and management of myotonic dystrophy type 1 and myotonic dystrophy type 2.The prevalence of myotonic dystrophy type 1 is better understood than the prevalence of myotonic dystrophy type 2, and new evidence indicates that the risk of cancer is increased in patients with ...
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This article describes the clinical features, pathogenesis, prevalence, diagnosis, and management of myotonic dystrophy type 1 and myotonic dystrophy type 2.The prevalence of myotonic dystrophy type 1 is better understood than the prevalence of myotonic dystrophy type 2, and new evidence indicates that the risk of cancer is increased in patients with ...
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Could it be Myotonic Dystrophy? Myotonic Dystrophy Presenting with Atrial Flutter
Scottish Medical Journal, 1992Myotonic dystrophy is a well recognised and well defined multisystem disorder which is inherited in an autosomal dominant fashion through a locus on chromosome 19 1 . The disease itself is characterised by rigidity and degeneration of skeletal muscle, cataract formation, gonadal atrophy ...
J S, McLay, A, Norris, F, Kerr
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EYE MOVEMENTS IN MYOTONIC DYSTROPHY
Brain, 1992Smooth pursuit eye movements were studied with infrared reflection equipment in 10 patients with myotonic dystrophy and in 10 age- and sex-matched controls. Smooth pursuit gain, measured after correction for catch-up saccades, was decreased in the patient group. Normal latencies of saccadic eye movements made a lack of attention an unlikely explanation
Bollen, E. +5 more
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Deconstructing Myotonic Dystrophy
Science, 2000Triplet repeat diseases are disorders in which there is expansion of a repeat sequence of three nucleotides in the affected gene. Although the pathology usually results from production of a defective protein, myotonic dystrophy (DM) has proved to be a puzzle because the expanded repeats appear in a non-coding region of the affected DMPK gene.
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Visceral Changes in Myotonic Dystrophy.
Annals of Internal Medicine, 1965Excerpt It is not generally appreciated that alteration of the muscular component of viscera can be a dominant feature of myotonic dystrophy.
B M, Schuman, J A, Rinaldo, J D, Darnley
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Autoantibodies in myotonic dystrophy.
Allergie et immunologie, 1989We evaluated some immunological parameters in a group of 24 patients affected with myotonic dystrophy (MD). IgG, IgA, IgM immunoglobulin serum levels resulted decreased in most of the patients. Anti-smooth-muscle antibodies have been found in 10 out of 24 patients (45.5%).
FIORITO, Silvana +7 more
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