GastroenterologyTier 2Disease (DEADMAN)

Oesophageal motility disorders

Description

Oesophageal motility disorders disrupt the coordinated peristaltic contraction and/or lower oesophageal sphincter relaxation needed for normal swallowing - achalasia, diffuse oesophageal spasm, and hypercontractile (jackhammer) oesophagus are recognised primary motility disorders, each with a distinct manometric pattern

Individually uncommon but an important differential for dysphagia and non-cardiac chest pain once structural/mucosal causes have been excluded on endoscopy

Achalasia - loss of inhibitory neurons in the myenteric plexus of the lower oesophagus -> failure of lower oesophageal sphincter relaxation + absent peristalsis in the oesophageal body - the most clinically significant and well-characterised motility disorder
Diffuse oesophageal spasm / hypercontractile oesophagus - abnormal, uncoordinated, or excessively forceful contractions without the LOS relaxation failure seen in achalasia

Dysphagia to both solids and liquids from the outset is a classic pointer toward a motility disorder (as opposed to a structural/mechanical cause, which typically causes solid-predominant dysphagia progressing over time)
High-resolution oesophageal manometry is the definitive diagnostic test, characterising the specific pattern (e.g. the Chicago Classification system for achalasia subtypes and other motility disorders)
Barium swallow in achalasia classically shows a dilated oesophagus with a smooth, tapered "bird's beak" narrowing at the gastro-oesophageal junction; endoscopy should always be performed first to exclude a structural/malignant cause (pseudoachalasia from tumour infiltration can mimic true achalasia)

Achalasia: pneumatic dilatation, surgical myotomy (Heller myotomy), or peroral endoscopic myotomy (POEM) - all aim to disrupt the non-relaxing LOS; botulinum toxin injection is an option for patients unfit for more definitive intervention, though effect is temporary
Diffuse oesophageal spasm/hypercontractile disorders: smooth muscle relaxants (calcium channel blockers, nitrates), and in refractory cases, some of the same interventional options used in achalasia (e.g. POEM) targeting the spastic segment
Distinguishing true achalasia from pseudoachalasia (malignancy infiltrating the gastro-oesophageal junction, mimicking achalasia's manometric/radiological pattern) is essential before proceeding to achalasia-specific treatment

Non-cardiac chest pain, pseudoachalasia (malignancy mimicking achalasia), gastro-oesophageal reflux disease (a differential and, for some motility disorders, a contributing factor)

Endoscopy should precede manometry in the workup of dysphagia to exclude a structural/mechanical or malignant cause first - a motility disorder diagnosis, particularly achalasia, should not be made on manometry alone without having excluded pseudoachalasia from an infiltrating malignancy

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