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)

Congenital myotonic dystrophy is a distinct entity causing severe hypotonia and other neuromuscular manifestations. The disease is usually inherited from the mother and shows a more severe course than the adult form of dystrophia myotonica. Congenital myotonic dystrophy is associated with increased perinatal mortality. We describe a case with this disorder and discuss the differential diagnosis in relation to other neuromuscular disorders causing hypotonia in early life.
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PMID:[Congenital myotonic dystrophy]. 150 55

Congenital myotonic dystrophy (CMD) is characterized by hypotonia, facies myopathica, feeding and respiratory problems, skeletal deformities and polyhydramniosis. It is an autosomal-dominant disorder transmitted via the mother. The diagnosis can as a role be confirmed by examining the mother, but can fail as she might be asymptomatic. During a nine year period, eight children were diagnosed as CMD which means an incidence of one case per approximately 3,500 live births. The diagnosis was confirmed in six of the mothers. The two floppy infants, where positive inheritance could not be proven, showed most of the signs and symptoms described in CMD. Four children died, two from respiratory insufficiency and two suddenly and unexpectedly. CMD may be one less common cause of sudden infant death syndrome (SIDS). The four children who survived displayed delayed psychomotor development.
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PMID:Congenital myotonic dystrophy. Incidence, clinical aspects and early prognosis. 356 52

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.
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PMID:"Shake hands"; diagnosing a floppy infant--myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis. 1115 37

Congenital myotonic dystrophy is a rare autosomal disease, caused by an increased number of cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19q. In the neonatal period the most peculiar clinical features are arthrogryposis, hypotonia, facial diplegia, respiratory and feeding difficulties. Clinical and electrical myotonic discharges are difficult to elicit in the newborn. We report a case of congenital myotonic dystrophy in a female newly born presenting with hypotonia, diaphragmatic paralysis, facial diplegia, and contractures of hips, knees and ankles. The diagnosis was confirmed by genetical study on lymphocyte DNA.
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PMID:[A neonatal case of congenital myotonic dystrophy]. 1142 42

Three neonates, all girls, were presented immediately after birth with severe hypotonia. Two of them needed artificial ventilation because of respiratory insufficiency. All three pregnancies had been complicated by reduced fetal movements and moderate cerebral ventricular dilatation and in two of the three there was also polyhydramnios and congenital talipes. In all three infants congenital myotonic dystrophy was suspected after diagnosing myotonia in the mother. This was done by observing that none of the mothers were unable to release their grip immediately on command after shaking hands. Ophthalmological examination of the women revealed polychromatic lens crystals characteristic of myotonic dystrophy. Congenital myotonic dystrophy was confirmed by DNA analysis, as well as myotonic dystrophy in the mothers. All had an expansion of the number of cytosine-thymine-guanine(CTG)-trinucleotides in a part of the myotonic dystrophy protein-kinase gene. The first two infants died after 2 days and 15 months respectively.
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PMID:[Congenital myotonic dystrophy--the significance of a handshake]. 1644 May 58

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.
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PMID:A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization. 2309 29

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder with variable expression. DM1 results from a trinucleotide expansion in the 3' untranslated region or the gene for myotonic dystrophy protein kinase (DMPK). Severity tends to increase and it shows a younger onset age with vertical transmission, a phenomenon known as anticipation. Congenital myotonic dystrophy (CDM) is classified as the most severe form of DM1, and its phenotype, with severe hypotonia, neonatal respiratory distress and feeding difficulties, is completely different from that of adult-onset type. Involvement of respiratory muscles may be the major cause of mortality in affected infants. Facial weakness with a tented upper lip is often recognized. If infants survive the neonatal period, muscle involvement symptoms gradually improve and most children do not require respiratory support or tube feeding. As CDM patients grow older, mental retardation or a developmental disorder becomes prominent. Furthermore, the main problems in childhood-onset DM, with an onset age under 10 years, are developmental disorders or learning disabilities, rather than muscle symptoms. Early meticulous support and cooperation with teachers are necessary. Medications such as methylphenidate may be helpful in DM1 children with attention deficit/hyperactivity disorder.
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PMID:[Clinical features and care of patients with congenital and childhood-onset myotonic dystrophy]. 2319 84

BACKGROUND Congenital myotonic dystrophy is a subtype of type 1 myotonic dystrophy presenting in the neonatal period. Cardiac involvement is commonly seen in patients with type 1 myotonic dystrophy beyond the neonatal period. Brugada syndrome is a conduction abnormality associated with a mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene and has been described in adult patients with type 1 myotonic dystrophy. Two cases are presented of type 1 myotonic dystrophy in neonates, one who had family members with a confirmed diagnosis of Brugada syndrome. CASE REPORT Case 1: A female infant at 40 weeks gestational age, birth weight of 3,395 grams was born to a 40-year-old gravida 4, para 3 (G4P3) mother. The mother had previously been diagnosed with Brugada syndrome. Multiple family members were identified and diagnosed with type 1 myotonic dystrophy and Brugada syndrome. The infant is being monitored closely with a plan to perform genetic testing for Brugada syndrome if she develops cardiac conduction abnormalities. Case 2: A male infant at 37 weeks gestational age, with a birth weight of 2,900 grams, was born to a 24-year-old gravida 2, para 1 (G2P1) mother. He was admitted to the neonatal intensive care unit (NICU) secondary to poor respiratory effort and generalized hypotonia. Severe polyhydramnios was diagnosed during pregnancy. The mother had previously been diagnosed with type 1 myotonic dystrophy. CONCLUSIONS Infants with congenital myotonic dystrophy should be carefully monitored for both structural and conduction abnormalities of the heart, supported by genetic testing.
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PMID:Congenital Myotonic Dystrophy and Brugada Syndrome: A Report of Two Cases. 3191 26