myotonic dystrophy/oedeem

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DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis.

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We report on the prenatal diagnosis of congenital myotonic dystrophy in a case of non-immune hydrops fetalis. DNA analysis of amniocytes revealed expansion of the trinucleotide (CTG) repeat within the myotonin PK gene, associated with myotonic dystrophy. The fetus was found to have approximately

Congenital myotonic dystrophy with progressive edema and hypoproteinemia.

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We report a patient with congenital myotonic dystrophy who had progressive edema and hypoproteinemia. An atrioseptal defect and patent ductus arteriosus were noted and were considered to be the cause of the right heart failure and edema. Although urinary protein levels were minimal, infusion of

Hydrops fetalis associated with congenital myotonic dystrophy.

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We report a case of congenital myotonic dystrophy in a newborn infant who presented with hydrops fatalis. Clinical features were hypotonia, generalized edema, pleural effusion, respiratory distress, scalp hematomas, and tented mouth facies. Review of literature shows that congenital myotonic

Hydrops and pleural effusions in congenital myotonic dystrophy.

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[A case of congenital myotonic dystrophy with hydrops fetalis].

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Myotonic dystrophy and pregnancy. A report of two cases and a review of the literature.

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Myotonic dystrophy is a rare disease (1/8000), that is rarely associated with pregnancy, due to the fact that parents carrying the disease often encounter hypogonadism. Myotonic dystrophy is a neuro-endocrinian 'heredo-degenerative' dystrophy, with dominant autosomic transmission. Its association

Is intraocular pressure in myotonic dystrophy patients spuriously low?

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BACKGROUND Ocular hypotony is a common unexplained feature of myotonic dystrophy type 1. Spuriously low applanation tonometric readings can be caused by thin corneas, flat corneal curvature and corneal edema. OBJECTIVE To determine whether structure abnormalities of the cornea cause spuriously low

Corneal thickness and endothelial cell characteristics in patients with myotonic dystrophy.

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OBJECTIVE To compare the characteristics of the endothelial cells of patients with myotonic dystrophy and those of normal subjects to determine if thicker corneas in patients with myotonic dystrophy are the result of their having abnormal endothelial cells leading to corneal

Severe congestive heart failure and cardiomyopathy as a complication of myotonic dystrophy in pregnancy.

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The pregnancy of a patient with myotonic dystrophy and heart failure due to cardiac involvement is described. Endomyocardial biopsy was performed at 32 weeks' gestation with echocardiographic guidance to establish the diagnosis. Severe congestive heart failure, refractory to conventional therapy,

MRI of tibialis anterior skeletal muscle in myotonic dystrophy type 1.

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OBJECTIVE The aim of this study was to evaluate whether magnetic resonance imaging (MRI) can be used as a noninvasive approach to assessment of disease severity and muscle damage in Myotonic Dystrophy type 1 (DM1). METHODS The MRI findings in legs of 41 patients with DM1 were evaluated with respect

[Polyhydramnios in congenital myotonic dystrophy].

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A case of hydramnion by congenital myotonic dystrophy is presented. By a 31 years old primipara typical causes of hydramnion as fetal malformations, immunologic or non-immunologic hydrops, diabetes mellitus or intrauterine infections could be excluded. Because of a severe fetal dystrophy with

Lower limb muscle magnetic resonance imaging in Chinese patients with myotonic dystrophy type 1.

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Objectives: Muscle magnetic resonance imaging (MRI) is a reliable noninvasion tool for detecting muscle abnormalities of myopathies. This study aimed to investigate the MRI features of lower limb muscles in Chinese patients with myotonic dystrophy type 1 (DM1) and to evaluate the correlation

Recurrent takotsubo syndrome in a patient with myotonic dystrophy 1.

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OBJECTIVE Stress-induced cardiomyopathy (takotsubo-syndrome, TTS) and its recurrence have not been described in myotonic dystrophy-1. METHODS The patient was a 47-year-old female who was suspected to suffer from myotonic dystrophy-1 at 20 years of age, upon the typical clinical presentation and the

Quantitative Muscle MRI Depicts Increased Muscle Mass after a Behavioral Change in Myotonic Dystrophy Type 1

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Background Patients with myotonic dystrophy type 1 (DM1) increased their physical activity and exercise capacity following a behavioral intervention. However, it is unknown what is altered in muscles of patients with DM1 as a result of this intervention. The increased exercise capacity suggests that

Myotonic dystrophy is a significant cause of idiopathic polyhydramnios.

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OBJECTIVE Myotonic dystrophy, the most common form of muscular dystrophy seen in pregnant women, may be a significant cause of middle trimester polyhydramnios. Our purpose was to determine the prevalence of myotonic dystrophy in women with idiopathic polyhydramnios and to characterize the

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