Family occurrence of achalasia and diffuse spasm of the oesophagus

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Abstract

In view of the unknown aetiology of achalasia and diffuse oesophageal spasm we report four families (father/son, mother/son, brother/brother, cousin/cousin) with achalasia and oesophageal spasm examined by radiology, endoscopy and manometry. Family occurrence of oesophageal motor disorders supports the hypothesis that a genetic trait may play a role in the pathogenesis. The family coincidence of achalasia and oesophageal spasm supports a close relationship between the two diseases.

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Frieling, T., Berges, W., Borchard, F., Lubke, H. J., Enck, P., & Wienbeck, M. (1988). Family occurrence of achalasia and diffuse spasm of the oesophagus. Gut, 29(11), 1595–1602. https://doi.org/10.1136/gut.29.11.1595

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