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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1. Serum bile acids in seven patients with adult type myotonic dystrophy and 22 normal persons were quantitatively analysed by gas-liquid chromatography and gas chromatography-mass spectrometry for cholesterol, gamma-glutamyltransferase and bilirubin. There was no bile obstruction in any patient. 2. Dexoycholic acid values in all mothers of patients with congenital type myotonic dystrophy were three times (2.1 mumol/l) that of the control (0.7 mumol/l). 3. Uncommon bile acids were detected in the patients' sera. One of them appeared to be dihydroxymono-oxocholanic acid, having a longer side chain. Another one appeared to be dihydroxycholanic acid, with a steroid-nucleus structure similar to chenodeoxycholic acid and with a longer side chain. 4. Biliary bile acids from three patients and one normal person were also analysed, and this revealed a remarkable decrease in ursodeoxycholic acid in the patients. 5. The presence of bile acid abnormality in patients with myotonic muscular dystrophy is proposed.
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PMID:Abnormalities of bile acids in serum and bile from patients with myotonic muscular dystrophy. 612 99

Myotonic dystrophies (DMs) encompass at least 2 forms: myotonic dystrophy type 1 and 2. In general, DMs are late-onset autosomal dominant disorders characterized by a variety of multisystemic features including myotonia, muscular dystrophy, cardiac conduction defects, dilated cardiomyopathy, posterior iridescent cataracts, frontal balding, insulin-resistance and disease-specific serological abnormalities such as gamma-glutamyltransferase and creatine kinase elevations, hyperglycemia, hypotestosteronism, and reduced immunoglobulin (Ig) G and IgM levels. Beyond the adult forms, in the classic DM1, a congenital form and an early-onset form is recognized. Here we summarize current aspects of the myotonic dystrophy pathogenesis and review the core features of both types of myotonic dystrophies, including the congenital DM1.
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PMID:Myotonic dystrophies type 1 and 2: a summary on current aspects. 1702 56