SUMMARY 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.Achalasia and diffuse oesophageal spasm of the oesophagus are diseases of unknown aetiology. Achalasia is characterised by the absence of peristalsis in the body of the oesophagus and a failure of the lower oesophageal sphincter (LOS) to relax in response to deglutition.' Simultaneous and repetitive contractions of high amplitude and long duration with a normal function of the LOS are the characteristics of diffuse oesophageal spasm. The yearly incidence of achalasia is 0.6 to 1 0/100 000. tent regurgitation for one year before admission. Barium swallow showed moderate dilatation of the oesophagus, tertiary contractions, and absence of LOS relaxation. Oesophageal manometry revealed simultaneous contractions of low amplitudes and incomplete relaxation of the LOS in response to deglutition (Fig. 1, top). The patient became asymptomatic after pneumatic dilatation of the LOS. CASE 2 A 64 year old father complained of moderate dysphagia, intermittent substernal pain in response to swallowing, occasional regurgitation, and symptoms worsening during stress over 14 years. Radiology revealed a markedly dilated and tortuous oesophagus with narrowing at the oesophagogastric junction (Fig. 2, left). At oesophagoscopy retention oesophagitis was found. Manometry showed hypomotility of the oesophagus and a failure of the LOS to relax. The patient refused therapy. A 50 year old man noticed dysphagia and regurgitation since puberty. The patient could take liquids only in an upright position. Cardiomyotomy and fundoplication were carried out at age 37 years. Two years later an epiphrenic diverticula was resected.
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