Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

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