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Achalasia-like symptoms

Achalasia is defined as a ‘primary oesophageal motility disorder characterised by the absence of oesophageal motility and failure to relax of the lower oesophageal sphincter’. (64) There are a number of case reports of achalasia-like symptoms developing in those born with OA/TOF. (65–67) The condition is also much more prevalent in those born with Down’s syndrome (1/1000 compared with 1/100 000 general population), which is relevant given OA/TOF may present as part of the syndrome. (68) However, one difficulty with the diagnosis of achalasia-like symptoms in those born with OA/TOF is that the symptoms are very similar to all the other oesophageal conditions found in these patients which are much more common. This means it is likely only to be diagnosed and/or suspected when barium swallow or oesophageal manometry show the characteristic appearance of the condition. This is particularly important as gastroscopy may show no obvious obstruction or inflammation. (64)


  • Dysphagia
  • Regurgitation
  • Weight loss
  • Chest pain
  • Heartburn


This is investigated and diagnosed in secondary care. The American College of Gastroenterologists guidelines (2020) recommend the following investigations. (69)

  • Barium swallow, which shows the oesophagus is dilated, and the lower oesophagus narrowed, with a ‘bird’s beak’ appearance. Contrast empties slowly as the sphincter only opens occasionally.
  • Oesophageal manometry is the gold standard for diagnosis of achalasia but is more difficult to interpret in those born with OA/TOF due to congenital peristalsis abnormality. In those with a previously typical oesophagus, incomplete relaxation of the lower oesophageal sphincter (LOS), high resting LOS pressure and absence of peristalsis are all essential to confirm a diagnosis of achalasia.
  • Oesophagogastroscopy is also recommended to rule out other causes of these symptoms.


  • Drug treatment is rarely effective and effects are usually only of short-term benefit. Nitrates such as isosorbide mononitrate and calcium channel blockers like nifedipine are most commonly used to relax the LOS, but are usually reserved for those not suitable for more definitive interventions.
  • Pneumatic (balloon) dilatation is successful in alleviating symptoms in up to 90% of patients but may need to be repeated several times.
  • Myotomy – surgical division of the LOS (usually laparoscopically, but can be thoracotomy) is very successful in alleviating symptoms, and provides relief in 83% of patients.
  • Oesophagectomy is rarely needed for those in whom other therapies have failed, and aspiration and malnutrition means action is essential.
  • Botox injection of the LOS is very effective in treating achalasia, but effects last only a matter of months, so is reserved for those unfit for dilatation or myotomy. (69)


  • Aspiration pneumonia due to retained contents of the oesophagus from the poorly emptying LOS.
  • Aggravation of GORD.
  • Oesophageal cancer – risk is increased in patients with achalasia by five times the risk of the general population. (70)