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 et al. (1988) studied this question.
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