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Cases reported "Myotonic Dystrophy"
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1/22. Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy.We present the clinical and neuroimaging findings of five patients (four males, one female; mean age 12 years) affected by congenital myotonic dystrophy and the correlation with their molecular genetic analysis. At birth all five presented severe muscular weakness and hypotonia, associated with feeding difficulties and respiratory distress. In the same patients, congenital clubfoot or more generalized arthrogryposis was also evident. Lymphocyte dna was characterized in each by a CTG repeat longer than 1300 in the region of the myotonic dystrophy gene in chromosome 19. The patients' neurological condition was evaluated by clinical examination, intelligence tests, electroencephalography, and brain magnetic resonance imaging. All five suffered from some impairment of intellectual function (IQ ranged from 52 to 79). In three a longitudinal evaluation of the cognitive deficit detected no deterioration. In all patients magnetic resonance imaging showed some degree of ventricular dilatation, loosely correlated to the cognitive impairment; in three there was hypoplasia of the corpus callosum and in two mild abnormalities of supratentorial white matter. The relationship between the size of the CTG repeat expansion found in lymphocyte dna and the cerebral abnormalities appeared inconsistent in this unusual myoencephalopathy of the newborn.- - - - - - - - - - ranking = 1keywords = birth (Clic here for more details about this article) |
2/22. The utility of the determination of CTG trinucleotide repeat length in hypotonic infants.A 9-month-old male infant was floppy from birth with nonprogressive facial and distal limb weakness and apparently normal mother and father. The facial characteristics and distribution of involvement suggested congenital myotonic dystrophy and the infant, but not the mother, had insertional myotonia in one of four muscles tested. Had the number of CTG trinucleotide repeats been tested when the presence of a congenital myotonic dystrophy-like clinical picture was first appreciated, the proper diagnosis could have been made several months earlier. The application of new molecular genetic techniques is changing the usual sequence of studies performed in the evaluation of the hypotonic infant.- - - - - - - - - - ranking = 1keywords = birth (Clic here for more details about this article) |
3/22. 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 = 1keywords = birth (Clic here for more details about this article) |
4/22. 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 = 2keywords = birth (Clic here for more details about this article) |
5/22. 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 = 1keywords = birth (Clic here for more details about this article) |
6/22. Neonatal respiratory failure due to myotonic dystrophy.myotonic dystrophy should be included in the differential diagnosis of neonatal respiratory failure accompanied by hypotonia. The effect of this disorder in an infant who died from it 49 hours after birth is described, and the importance of examining the mother of a possible case is emphasized.- - - - - - - - - - ranking = 1keywords = birth (Clic here for more details about this article) |
7/22. Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.myotonic dystrophy type 1 (DM1) is an autosomal dominant trinucleotide repeat disorder that shows anticipation. The mildest manifestations of the DM gene are usually noted in individuals with the smallest repeat sizes, while congenital myotonic dystrophy (CDM) is the most common clinical outcome of the larger expansions. For many years, it was thought that CDM could only be maternally transmitted. However, in the last few years, cases of paternal transmission of CDM have been described. We report a child with the CDM phenotype and 1, 800 CTG repeats born to an asymptomatic father with 65 repeats and compare this case to the four currently in the literature. We note that polyhydramnios was present in the majority of cases and that all fathers whose status was known had small repeat sizes and/or were asymptomatic at the time of their child's birth. Although it may be unusual, the possibility of the paternal transmission of CDM should be mentioned when counseling families with DM. The men who are at highest risk may be those who have small repeats sizes and are asymptomatic.- - - - - - - - - - ranking = 1keywords = birth (Clic here for more details about this article) |
8/22. dna analysis in a suspected individual with myotonic dystrophy family history and her abortus.OBJECTIVE: To observe trinucleotide repeat number, (CTG)n in the 3'-untranslated region of the myotonic protein kinase (MTPK) gene in a clinically suspected woman with myotonic dystrophy (DM) family history and her abortus, in order to confirm the necessity of exerting antenatal examination in patients or suspected individuals with DM family history. methods: Long Expand Template polymerase chain reaction (PCR) system was used to analyze CTG trinucleotide repeat numbers located in the 3' untranslated region of MTPK on chromosome 19q13.2-3 in both peripheral white cells and muscles of the suspected mother and the other two DM patients in the family. The tissues of her abortus and blood of a health woman were detected, too. RESULTS: CTG repeats in both peripheral white cells and muscles of the suspected mother and the tissue of abortus were higher than normal range of CTG repeat number. There is no significant difference between blood and muscle samples. High CTG repeats were detected in blood and muscles of the typical DM members in the family, but in the blood sample of control, CTG repeats is normal. CONCLUSION: CTG trinucleotide analyses and antenatal examination should be done in pregnant with a DM family history, in order to reduce the birth rate of DM offspring.- - - - - - - - - - ranking = 1keywords = birth (Clic here for more details about this article) |
9/22. 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 = 1keywords = birth (Clic here for more details about this article) |
10/22. Developmental delay in congenital myotonic dystrophy after neonatal intensive care.Six infants with congenital myotonic dystrophy survived after neonatal intensive care. In later childhood they were assessed by the Griffiths Mental Development Scales: five children were functioning in the mildly handicapped to borderline range of development (DQ 64.0 to 79.0) and the remaining child was severely delayed in development (DQ 33.0). The five children with higher DQ values had a history of ventilatory support of 30 days or less after birth. By contrast, the remaining child with the lowest DQ value had been ventilated for 43 days. This study provides further evidence that prolonged ventilation after birth has prognostic significance in identifying severely affected cases with congenital myotonic dystrophy.- - - - - - - - - - ranking = 2keywords = birth (Clic here for more details about this article) |
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