Stran 1 iz 25 rezultatov
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
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
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
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
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
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
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,
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
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
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
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
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
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