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. 1992 Oct;33(10):1421–1423. doi: 10.1136/gut.33.10.1421

Familial coexistence of achalasia and non-achalasic oesophageal dysmotility: evidence for a common pathogenesis.

C J O'Brien 1, H L Smart 1
PMCID: PMC1379617  PMID: 1446873

Abstract

In five of seven siblings of healthy parents, dysphagia developed during adolescence or early adult life. A barium swallow was normal in one patient but showed appearances considered to be consistent with achalasia in all others. Oesophageal manometry was successfully performed in four of the five patients, including the patient with symptoms but normal radiological appearance. One patient had achalasia, two had oesophageal body motor dysfunction associated with a hypertensive, but normally relaxing lower oesophageal sphincter, and one had diffuse oesophageal spasm alone. The occurrence of three different oesophageal dysmotility disorders within members of a single sibship suggests that these conditions are intimately related and probably genetically determined as an autosomal recessive trait.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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