Survey of patients with early-onset myotonic dystrophy in the San-in district, Japan

Takeshita, Kenzo; Tanaka, Kaoru; Nakashima, Toshio; Kasagi, Shigeto

doi:10.1007/bf01876360

Cited by 6 publications

(1 citation statement)

References 7 publications

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“…Nine of these patients (the first sibling in families A, G, and I, siblings 1 and 2 in family J, and both children in families K and L) were examined (by P.I.A.) at ages 19,15,10,27,22,19,13,25, and 21 years, respectively. All exhibited myopathic features and myotonia of grip.…”

Section: Resultsmentioning

confidence: 99%

Relative Disease Severity in Siblings With Myotonic Dystrophy

Andrews¹,

Wilson

1992

J Child Neurol

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Myotonic dystrophy is an autosomal dominant disorder in which an early-onset form is characteristically inherited from the mother. We studied 17 affected sibling pairs from 15 families in which two or more affected children were born to mothers with myotonic dystrophy. Later-born affected children suffered more severe disease than their first-born siblings in 13 of 17 sibling pairs. Later-born affected siblings displayed significantly more neonatal feeding difficulties, later age when first sitting alone, later age when first walking alone, and a higher incidence of scoliosis. The overall difference in disease severity between affected siblings increased as the age difference between them increased, suggesting that increasing maternal age is a factor in the relative disease severity of affected children. These findings may have relevance for genetic counseling.

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Section: Resultsmentioning

confidence: 99%

Relative Disease Severity in Siblings With Myotonic Dystrophy

Andrews¹,

Wilson

1992

J Child Neurol

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Myotonic dystrophy

Tanaka

1985

Medical Hypotheses

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Myotonic dystrophy (MYD) has been localized to chromosome 19. Like other hereditary diseases with a genetic locus assigned to chromosome 19, MYD is a genetically inherited autosomal dominant disease. It is speculated that such a genetic pattern may express the characteristics of chromosome 19. We previously proposed that abnormalities of bile acid metabolism play a pathogenetic role in MYD, in which deoxycholic acid acts as a maternal factor in association with the onset of congenital MYD. Increased gamma-glutamyl-transpeptidase (gamma GTP) (probably hydrophobic deoxycholate-solubilized gamma GTP instead of hydrophilic papain-solubilized gamma GTP) in MYD may be related to the abnormalities of bile acid metabolism. Muscle wasting in MYD may be explained by these abnormalities as well. The resemblances between common metabolism of bile acids and alcohol and between common changes in MYD and alcoholic myopathy may lend support to a hypothesis that 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 26-tetrol dehydrogenase and 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestan-26-al dehydrogenase activities are impaired in MYD.

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