1/29. Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy.Proximal myotonic myopathy is a recently described autosomal dominant condition characterized by proximal myopathy, cataracts, intermittent myotonia, and myalgia. We report a further family with this condition. The proband and her two sisters presented with myotonia during pregnancy which resolved after each delivery. Two sisters experienced myalgia between each pregnancy. This relationship between pregnancy and symptom exacerbation suggests an intriguing hormonal influence in PROMM.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
2/29. Combined maternal and congenital myotonic dystrophy managed by a multidisciplinary team.myotonic dystrophy is a rare autosomal dominant degenerative neuromuscular and neuroendocrine disease. pregnancy can aggravate the maternal disease. Obstetrical complications include stillbirth, premature labor, polyhydramnion, abnormal presentation, prolonged labor, increased operative delivery, postpartum hemorrhages and anesthetic accidents. If the fetus is affected severe neonatal morbidity and mortality with arthrogryposis and mental retardation is common. We present a case where the family chose continuation of pregnancy with a known diagnosis of maternal and severe fetal myotonic dystrophy. A multidisciplinary team was used in the management of pregnancy and counseling the patient.- - - - - - - - - - ranking = 0.28571428571429keywords = pregnancy (Clic here for more details about this article) |
3/29. "Shake hands"; diagnosing a floppy infant--myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis.myotonic dystrophy is a multi-organ disease inherited in a complicated way. Congenital myotonic dystrophy is a distinct entity with severe symptoms leading to a high rate of perinatal morbidity and mortality. The occurrence of congenital myotonic dystrophy often allows a subsequent diagnosis in the mother with important implications for her life, her further pregnancies and offspring. Genetic principles of anticipation and somatic mosaicism are involved and hamper the prenatal diagnostic possibilities. A family is presented in which maternal myotonic dystrophy and congenital myotonic dystrophy were diagnosed after the third pregnancy. The key features leading to the diagnosis were obstetric history, neonatal hypotonia and asphyxia, facial abnormalities in the mother together with the inability to bury eyelashes and delayed release of grip after shaking hands. The disorder is reviewed with respect to clinical symptoms, pathogenesis and genetics.- - - - - - - - - - ranking = 0.14285714285714keywords = pregnancy (Clic here for more details about this article) |
4/29. Severe congenital myotonic dystrophy and severe anaemia of prematurity in an infant of Jehovah's Witness parents.Severe congenital myotonic dystrophy (CMD) is an autosomal dominant condition characterized by hypotonia and respiratory insufficiency at birth. Terminal outcome has been reported in infants requiring ventilation for longer than 30 days. The case is reported of an infant born at 34 weeks' gestation with severe CMD. infant survived following ventilatory support from birth until day 67 of life. Subcutaneous erythropoietin (600 units, three times weekly) was commenced on day 6 as the Jehovah's Witness parents were strongly opposed to blood transfusions. Haemoglobin fell to 5.8 g/dL without adverse effects and then progressively rose to 15.4 g/dL. No blood transfusions were necessary. This case illustrates that infants with severe CMD requiring ventilation for more than 30 days do not have a universally fatal outcome. Low haemoglobin was well tolerated which calls for re-examination of the indications for blood transfusions in ventilated neonates.- - - - - - - - - - ranking = 0.070408290334858keywords = gestation (Clic here for more details about this article) |
5/29. sleep apnea and respiratory dysfunction in congenital myotonic dystrophy.A case of neonatal myotonic dystrophy (MD) is presented. A 35 week old 3570 g baby was born to a mother affected by MD and pregnancy-induced unstable diabetes. Soon after birth, he developed apnea, severe hypoglycemia, hypocalcemia, hypotonia and mild respiratory distress. His clinical course improved during the following days, but persistent episodes of desaturation and/or cyanosis did not subside; hypotonia was mild. A polysomnographic recording showed mixed central and obstructive apnea. dna testing showed trinucleotide repeat expansion mutations diagnostic of MD. The baby was discharged with home-sleep monitoring and breast-feeding. Recurrent apnea/bradycardia was the main clinical feature in this case of congenital MD, with increased risk of an acute life-threatening event.- - - - - - - - - - ranking = 0.14285714285714keywords = pregnancy (Clic here for more details about this article) |
6/29. intestinal pseudo-obstruction in myotonic dystrophy.We describe four myotonic dystrophy (DM) patients who developed recurrent intestinal pseudo-obstruction. Some episodes were associated with gastroenteritis, while abdominal crowding may have occurred in one case during the third trimester of pregnancy. In most instances, however, no apparent cause could be identified. intestinal pseudo-obstruction may occur at any stage of DM. In one of our cases intestinal pseudo-obstruction preceded significant muscle weakness by 15 years. intestinal pseudo-obstruction is usually treated effectively with conservative measures. These include restriction of oral intake, intravenous fluids, and multiple enemas or colonoscopy. Improved intestinal function was noted in one case treated with the prokinetic agent cisapride. A partial sigmoid resection was performed in three cases with dolichomegacolon. No abnormalities were reported on histological examination. Since intestinal pseudo-obstruction is a rare complication of DM, it is of interest that two of our cases are sibs. review of published reports showed several reports of familial occurrence of specific complications. These include cardiac conduction disturbances, focal myocarditis, mitral valve prolapse, pilomatrixomas, polyneuropathy, normal pressure hydrocephalus, and dilatation of the urinary tract. myotonic dystrophy may show a tendency to familial clustering of organ specific involvement.- - - - - - - - - - ranking = 0.14285714285714keywords = pregnancy (Clic here for more details about this article) |
7/29. Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature.OBJECTIVES: myotonic dystrophy can be associated with increased obstetric risks, but the maternal contribution for gestational outcome is difficult to establish considering the varying degrees of severity and the influence of fetal factors. STUDY DESIGN: We analyzed the pregnancy course and outcome of 31 women with classic myotonic dystrophy, who delivered a total of 66 children. In addition, 93 gestations from the literature were reviewed. RESULTS: As most patients were not aware of their diagnosis at reproductive age, often the first indication of the maternal disease was a severely affected child (39%). Miscarriages and pre-eclampsia did not increase. Ectopic pregnancies occurred in 4%, placenta previa in 9% of gestations, while postpartum hemorrhage due to uterine atonia was only reported twice. Severe urinary tract infections were reported for 19% of the patients, but were only rarely encountered in the literature. Preterm labor, before 34 weeks, occurred in 19% of gestations and was often, but not exclusively attributed to congenitally affected fetuses in contrast to polyhydramnios (17%). Labor abnormalities of all three stages were frequent, increasing the number of operative deliveries (cesarean section rate 36%). perinatal mortality was 15% and mainly related to congenitally affected children. CONCLUSIONS: The risk for obstetric complications and urinary tract infections increases for pregnant patients with myotonic dystrophy. They need constant obstetric monitoring. It is hoped that a better awareness of the clinical picture might help to improve gestational outcome in myotonic dystrophy.- - - - - - - - - - ranking = 0.49489859453143keywords = pregnancy, gestation (Clic here for more details about this article) |
8/29. rhabdomyolysis caused by tocolysis with oral ritodrine hydrochloride in a pregnant patient with myotonic dystrophy.Drug-induced rhabdomyolysis during pregnancy is extremely rare. We report here a rare case of ritodrine-hydrochloride-induced rhabdomyolysis in a pregnant patient with myotonic dystrophy. A 32-year-old primigravida was admitted because of premature labor at 31 weeks of gestation. She had been diagnosed as having myotonic dystrophy by electromyographic investigations and abnormal serum creatinine phosphokinase (CPK) levels. tocolysis was initiated with oral ritodrine hydrochloride (15 mg/day) alone. There was a prompt response to the ritodrine hydrochloride. Three days after administration began, serum CPK levels had become markedly elevated to 10,897 mg/dl and myoglobinuria was detected (1,800 ng/dl), suggesting the presence of rhabdomyolysis. There was no evidence of worsening of the myotonic symptoms. tocolysis was stopped immediately, and the laboratory data improved gradually. At 37 weeks of gestation, she spontaneously delivered a healthy male baby. rhabdomyolysis has been recognized as a complication of tocolytic therapy with ritodrine hydrochloride. Therefore, beta-adrenergic agents should be used with great care, especially for patients with myotonic dystrophy, because of these agents' tendency to aggravate or precipitate myotonia and to induce rhabdomyolysis.- - - - - - - - - - ranking = 0.28367372352686keywords = pregnancy, gestation (Clic here for more details about this article) |
9/29. Congenital myotonic dystrophy.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 this pregnancy. Despite being fully aware of the risks, they declined prenatal diagnosis. The pregnancy was monitored by serial ultrasound scans. The diagnosis of CDM was suspected by ultrasound markers of borderline ventriculomegaly, polyhydramnios, and reduced fetal movements. The pregnancy ended prematurely at 33 weeks in an emergency caesarean section because of severe fetal compromise. The neonate died almost immediately after birth. The genetic analysis of cord blood confirmed severe DM. This case highlights the importance of ultrasound markers for the diagnosis of CDM in the absence of definitive prenatal diagnosis.- - - - - - - - - - ranking = 0.42857142857143keywords = pregnancy (Clic here for more details about this article) |
10/29. prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction.The polymerase chain reaction has been used to detect an abundant class of short repeat dna families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19q12-q13.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 15 1/2 weeks' gestation. Following dna extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.- - - - - - - - - - ranking = 0.070408290334858keywords = gestation (Clic here for more details about this article) |
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