Results 171 to 180 of about 17,131 (226)
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Fetal Diagnosis and Therapy, 2005
We describe a case of severe congenital myotonic dystrophy (CDM). A 38-year-old primigravida, who was known to suffer from mild myotonic dystrophy (DM), conceived spontaneously and booked for confinement at 11 weeks in our unit. The couple had been fully counseled about the risks of transmission of this condition to their offspring before embarking on ...
K, Upadhyay, A, Thomson, M J M, Luckas
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We describe a case of severe congenital myotonic dystrophy (CDM). A 38-year-old primigravida, who was known to suffer from mild myotonic dystrophy (DM), conceived spontaneously and booked for confinement at 11 weeks in our unit. The couple had been fully counseled about the risks of transmission of this condition to their offspring before embarking on ...
K, Upadhyay, A, Thomson, M J M, Luckas
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The Indian Journal of Pediatrics, 2001
Myotonic muscular dystrophy is the most frequent autosomal muscular dystrophy affecting adults and children. It affects multiple organ systems and is probably the best example of variable expressivity in a human disease. This article presents a patient with congenital myotonic dystrophy who had facial dysmorphism, hypotonia, talipes, feeding and ...
S, Gulati +5 more
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Myotonic muscular dystrophy is the most frequent autosomal muscular dystrophy affecting adults and children. It affects multiple organ systems and is probably the best example of variable expressivity in a human disease. This article presents a patient with congenital myotonic dystrophy who had facial dysmorphism, hypotonia, talipes, feeding and ...
S, Gulati +5 more
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Neurologic Clinics, 1989
Myotonic muscular dystrophy is inherited as an autosomal dominant disease and affects many different organ systems. Genetic research has located the DM gene to chromosome 19. Using new DNA probes, highly accurate genetic counseling can be provided for families with DM.
M J, Alberts, A D, Roses
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Myotonic muscular dystrophy is inherited as an autosomal dominant disease and affects many different organ systems. Genetic research has located the DM gene to chromosome 19. Using new DNA probes, highly accurate genetic counseling can be provided for families with DM.
M J, Alberts, A D, Roses
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Seminars in Neurology, 1999
Myotonic dystrophy, or dystrophia myotonica (DM), is the most common inherited muscle disorder in adults. DM is a multisystem disease in which the most disabling feature is muscle wasting that begins in the distal limb and cranial muscles. The genetic basis for DM is an expanded CTG repeat in the DMPK gene on chromosome 19.
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Myotonic dystrophy, or dystrophia myotonica (DM), is the most common inherited muscle disorder in adults. DM is a multisystem disease in which the most disabling feature is muscle wasting that begins in the distal limb and cranial muscles. The genetic basis for DM is an expanded CTG repeat in the DMPK gene on chromosome 19.
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Myotonic Dystrophy and Selenium
Acta Medica Scandinavica, 1982ABSTRACT. The correlation between selenium concentration in blood serum and the severity of the disease was investigated in 22 patients with myotonic dystrophy. Their serum concentrations of selenium and some other trace elements were compared with those of a control grup.
G, Orndahl, A, Rindby, E, Selin
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Current Opinion in Neurology, 2000
This review demonstrates genetic and phenotypic heterogeneity in all of the multisystemic myotonic disorders collectively called 'myotonic dystrophies' according to the new nomenclature: myotonic dystrophy type 1, myotonic dystrophy type 2, proximal myotonic myopathy and proximal myotonic dystrophy.
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This review demonstrates genetic and phenotypic heterogeneity in all of the multisystemic myotonic disorders collectively called 'myotonic dystrophies' according to the new nomenclature: myotonic dystrophy type 1, myotonic dystrophy type 2, proximal myotonic myopathy and proximal myotonic dystrophy.
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Myotonic megacolon in myotonic dystrophy
American Journal of Roentgenology, 1978Myotonic dystrophy has been incriminated as a cause for dilatation of the colon. This occurrence has occasionally been mistaken for bowel obstruction, and sumgery has been unnecessarily performed [1 , 2]. Since a spectrum of signs and symptoms may be present in myotonic dystrophy, it is important to keep this possibility in mind in cases of bowel ...
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Continuum
This article reviews the genetic basis, pathogenic mechanisms, epidemiology, clinical presentation, multiorgan involvement, and multidisciplinary management of myotonic dystrophy type 1 (DM1) and type 2 (DM2), as well as the differential diagnosis of myotonic disorders (DM versus nondystrophic myotonic disorders) and electrical myotonia.Due to ...
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This article reviews the genetic basis, pathogenic mechanisms, epidemiology, clinical presentation, multiorgan involvement, and multidisciplinary management of myotonic dystrophy type 1 (DM1) and type 2 (DM2), as well as the differential diagnosis of myotonic disorders (DM versus nondystrophic myotonic disorders) and electrical myotonia.Due to ...
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Myotonic Dystrophy and Pregnancy
Australian and New Zealand Journal of Obstetrics and Gynaecology, 1981Summary:“Always shake the hand of the pregnant patient with cataracts”. A patient with undiagnosed myotonic dystrophy presented in pregnancy with a history of postpartum haemorrhage in her previous pregnancies. She had been operated on for cataracts. Problems arose after delivery which lead to the diagnosis of myotonic dystrophy being made at that time.
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Myotonic Dystrophies and the Heart
Cardiology in Review, 2012Myotonic dystrophy (MD) is a neuromuscular disorder of autosomal dominant inheritance, which is categorized by 2 main sub-types: type 1 (MD1) and type 2 (MD2). This disease is characterized by myotonia and various multisytemic complications, most commonly of the cardiac, endocrine, and central nervous systems.
Sunit-Preet, Chaudhry +1 more
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