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A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission

S Anuras, F A Mitros, T V Nowak

    Gastroenterology
    |February 1, 1983
    PubMed

    Insights

    A new autosomal recessive visceral myopathy was identified in a family. Jejunal manometry can detect asymptomatic carriers of this rare genetic gastrointestinal motility disorder.

    Area of Science:

    • Genetics
    • Gastroenterology
    • Neuromuscular Disorders

    Background:

    • Familial visceral myopathy is a rare gastrointestinal motility disorder.
    • Previous cases suggest autosomal dominant inheritance, but this study investigates a family with autosomal recessive inheritance.

    Observation:

    • A family with visceral myopathy was identified, with 3 affected individuals out of 1500 members.
    • Affected patients exhibited gastric atony, small bowel dilatation, and jejunal fibrosis.
    • Two patients also presented with ptosis and external ophthalmoplegia.

    Findings:

    • The disease in this family follows autosomal recessive inheritance, with affected individuals being products of consanguineous marriages.
    • Jejunal manometry revealed abnormalities in asymptomatic relatives, including altered migrating motor complexes and increased phase 2 motility.
    • Pathology showed jejunal muscle layer degeneration, consistent with previous reports.

    Implications:

    • This study identifies a new pattern of inheritance for familial visceral myopathy.
    • Jejunal manometry is a sensitive diagnostic tool for identifying asymptomatic carriers (heterozygotes) of this condition.
    • Understanding the genetic basis and carrier detection is crucial for genetic counseling and family planning.

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