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[Familial dysphagia].

T Frieling, M Wienbeck, W Berges

    Zeitschrift Fur Gastroenterologie
    |July 1, 1986
    PubMed
    Summary
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    Familial cases of achalasia and esophageal spasm suggest a genetic link in these motility disorders. This also indicates a close relationship between achalasia and diffuse esophageal spasm, highlighting achalasia

    Area of Science:

    • Gastroenterology
    • Genetics
    • Esophageal Motility Disorders

    Background:

    • The causes of achalasia and diffuse esophageal spasm are largely unknown.
    • Esophageal motility disorders can have significant health consequences, including aspiration pneumonia.

    Observation:

    • Two families presented with father/son and mother/son pairs exhibiting achalasia and esophageal spasm, respectively.
    • Diagnostic evaluations included radiology, endoscopy, and manometry.
    • One patient, the mother, unfortunately succumbed to aspiration pneumonia.

    Findings:

    • The familial occurrence of these conditions supports a potential genetic predisposition in some esophageal motility disorders.
    • The co-occurrence of familial achalasia and esophageal spasm suggests a strong etiological link between these two conditions.

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  • Achalasia is identified as a potentially life-threatening disorder.

    • Implications:

    • These findings advocate for further investigation into the genetic underpinnings of esophageal motility disorders.
    • Understanding the relationship between achalasia and diffuse esophageal spasm may lead to improved diagnostic and therapeutic strategies.
    • Recognizing the genetic component could inform personalized risk assessment and management for affected families.