Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Steinert's disease or myotonic dystrophy is a heredo-degenerative neuroendocrinal dystrophy. It is an autosomal dominant disorder. The arising of a congenital myotonic dystrophy of one of the new-born children of the maternity hospital enabled to diagnose the Steinert's disease of his mother. A review of the international literature enabled us to recall its interactions with pregnancy. There is an aggravation of myotonia and multiple obstetric complications such as miscarriage, premature onset of labor, polyhydramnios, stillbirth, difficulties during the evacuation, atonic postpartum hemorrhage, anesthetic-accidents. The congenital variant of myotonic dystrophy (6 to 30% of the cases) is a severe disease with a high mortality. It is only seen in the offspring of mothers who themselves have myotonic dystrophy. The myotonic dystrophy gene has been isolated and the mutation-causing myotonic dystrophy was found to result from a series of trinucleotide (CTG) repeats located in the 3' untranslated region of the gene. The direct diagnosis is henceforth possible both on the fetus and parents. Steinert's disease and its association with pregnancy are rare, especially when the affected parent has hypogonadism. The diagnosis of the congenital form is difficult because of the mother is unaware of the disorder. Family and personal history may give hints: hydramnios, appearance delay and reduced fetal movements, and the association at birth of generalized hypotonia with neonatal respiratory distress.
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PMID:[Steinert's disease and pregnancy. A case report and recent literature]. 778 90

We report a family with an undiagnosed X linked condition. The grandmother, two of her three daughters, and one of her grand-daughters have a slowly progressive proximal weakness, brisk reflexes, poor bladder function, static reduced night vision, and IgG2 deficiency. The diagnosis of the three living symptomatic females was "hereditary spastic paraplegia plus". They have lost five male children who died in the neonatal period of severe hypotonia and were of low birth weight. Investigations have not led to a unifying diagnosis: myotonic dystrophy, NARP, and X linked hyper IgM were specifically eliminated. Using the hypothesis that the condition is X linked dominant, haplotype analysis of the family suggests that the disease locus is within Xq26-qter. This entity should be considered in the differential diagnosis of families presenting with severe neonatal hypotonia in males and females with symptoms suggestive of complex hereditary spastic paraplegia.
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PMID:Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition. 778 67

The congenital variant of myotonic dystrophy (CMD) is a severe disease with a high mortality. CMD is only seen in the offspring of mothers who themselves have myotonic dystrophy (MD). We present 13 patients with clinical symptoms of CMD and neuropathological findings of five of them. The most characteristic symptoms during pregnancy are reduced fetal movements and polyhydramnios. In the neonatal period generalized hypotonia, facial weakness, hyporeflexia, feeding and respiratory difficulties are present. Most of the children have a characteristic tented upper lip. The symptoms greatly diminish after a few weeks. All the children who survive the neonatal period are psychomotor retarded. On pathological examination no specific features were found in muscle tissue or in the brain. The pathogenesis and the cause of the maternal inheritance of CMD is not clear. A review of the literature is provided.
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PMID:Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature. 813 14

Steinert's syndrome is a systemic disease with autosome mother-to-child transmission, characterized by myotonia and muscular dystrophia. The syndrome's clinical characteristics include: respiratory and alimentation diseases, facial diplegia, generalized hypotonia, areflexia, atrophy, arthrogryposis, hydramnios, retard in psychomotor development, cataract and genital disorders. A case of pregnancy occurs in Steinert syndrome's patient with hydramnios as a predominant symptom, is presented. At birth, in the congenital neonatal form, there is grave, generalized hypotonia which causes a very quick death of the newborn. There are not many characters which can be found out by ultrasound: hydramnios, reduction of fetal tone and active movements, micrognathia. Consequently it is of the utmost importance in those cases an adequate prenatal genetic counseling and a correct obstetrical management.
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PMID:[A rare cause of polyhydramnios: Steinert's syndrome. A clinical case report]. 916 86

myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, muscle weakness and myotonia, which can affect both mother and child. Complications may arise during pregnancy, delivery, including anaesthetic problems, and in the neonatal period. During pregnancy hydramnion can be a first sign of the disease leading to premature labor and also muscle weakness and myotonia can aggravate complicating the course of delivery. The affected neonate may display severe hypotonia, facial diplegia and respiratory distress. The clinical diagnosis can be confirmed by direct DNA analysis in serum and in chorionvillus biopsy material. In this case report two sisters with myotonic dystrophy are described, their pregnancies, deliveries and the outcome of their affected babies.
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PMID:Myotonic dystrophy in pregnancy: a report of two cases within one family. 922 95

Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding an MtPK. Infants with congenital DM are shown to have on average a greater amplification of the CTG repeat than is seen in the noncongenital DM patients. The major clinical features of congenital DM are bilateral facial weakness, hypotonia, feeding difficulties, respiratory distress, delayed motor development and mental retardation. We present 6 patients, aged 11-35 years, from unrelated 5 families with clinical symptoms of congenital DM. The four of the patients were inherited paternally and only one showed a reduction in the CTG repeat size.
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PMID:[Clinical and molecular genetic analyses of congenital myotonic dystrophy]. 943 43

Myotonic dystrophy (DM), the most common muscular dystrophy of adult life, presents with a variety of clinical and genetic challenges to all involved; patients, their families, and clinicians. The clinical picture is extremely variable and may range from mild adult onset myotonia to severe congenital hypotonia associated with respiratory distress. An infant born to a mother with DM had remarkable hypotonia, expressionless face, respiratory difficulties, and club feet. Direct molecular genetic testing of the newborn and the mother showed trinucleotide repeat expansion mutations. Genetic counseling issues as well as the value of prenatal diagnosis are presented.
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PMID:Clinical expression of myotonic dystrophy: the predictive role of DNA diagnosis. 950 53

This is a consecutive study on 28 patients who have been diagnosed as having congenital muscular dystrophy at Jordan University Hospital in the period from January 1990 to February 1997. Of 75 patients diagnosed as having muscle disease, 55 (73.3%) had muscular dystrophy. Of 55 muscular dystrophy patients, 28 (50.9%) had congenital muscular dystrophy, 11 (20%) had Duchenne muscular dystrophy, 9 (16.4%) had Becker muscular dystrophy, 4 (7.3%) had myotonic dystrophy, 2 (3.6%) had limb-girdle dystrophy, and 1 (1.8%) patient had facioscapulohumeral dystrophy. Age of onset of symptoms of congenital muscular dystrophy (hypotonia and weakness) was documented antenatally or in the first few months in the majority (92.9%) of patients. Parental consanguinity was documented in 21 (75%) of congenital muscular dystrophy cases, and family history of possible similar cases in 15 (53.6%). Congenital muscular dystrophy patients with normal cognitive milestones (n = 16; 57.1%) were slightly more common than patients with cognitive delay. In contrast to previous reports, congenital muscular dystrophy is probably more common in communities with high rates of parental consanguinity than other dystrophies. Our study adds significant support to the most recent literature on this finding.
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PMID:Congenital muscular dystrophy in Jordanian children. 972 93

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.
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PMID:Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy. 1032 16

Alteration of the pharyngoesophageal musculature is a common finding in patients with myotonic dystrophy (MD), regardless of the presence of dysphagia. The aim of the present study was to determine whether a specific pattern of swallowing abnormalities could be identified in MD patients, and the possible correlation with the size of CTG repeats. Fifteen MD patients, 8 of whom were asymptomatic for dysphagia, underwent a videofluoroscopic study of swallowing. Alterations of the pharyngoesophageal phase of swallowing were detected in 12 of 15 patients, 6 without clinical evidence of dysphagia. Incomplete relaxation of the upper esophageal sphincter (UES) and esophageal hypotonia were the most common alterations. We found a significant correlation between the number of radiological alterations and the size of CTG repeats. A typical radiological pattern of swallowing has also been identified. The role of videofluoroscopy in evaluation of MD patients is briefly discussed.
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PMID:Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients. 1093 40


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