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Achalasia
Achalasia is a primary esophageal motility disorder with impaired LES relaxation and absent/abnormal peristalsis causing functional obstruction and progressive dysphagia
Prevalence
N/A
N/A
US Estimated
N/A
Europe Estimated
Age of Onset
adulthood
ICD-10
k22.0
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
A rare esophageal motility disorder where the lower esophageal sphincter fails to relax properly, leading to difficulty swallowing, regurgitation, and chest pain. It increases the risk of esophageal cancer.
5 Facts you should know
FACT
Progressive dysphagia to solids and liquids with regurgitation and chest pain
FACT
High-resolution manometry establishes subtype (I–III) and guides therapy
FACT
Definitive options: POEM, Heller myotomy ± fundoplication, or graded pneumatic dilation
FACT
Prevent reflux/esophagitis after myotomy/POEM; surveil for stricture as indicated
FACT
Botulinum toxin is reserved for poor surgical candidates due to transient efficacy
Interest over time
Google searches
Common signs & symptoms
Progressive dysphagia to both solids and liquids (key distinguishing feature)
Regurgitation of undigested food or saliva, often nocturnal
Retrosternal chest pain or pressure
Chronic cough or recurrent aspiration, especially at night
Unintentional weight loss in advanced disease
Clinical clue: Early dysphagia to liquids favors a motility disorder over mechanical obstruction.
Current treatments
Definitive therapies (preferred)
• Pneumatic dilation of the lower esophageal sphincter
• Laparoscopic Heller myotomy (often with partial fundoplication)
• Peroral endoscopic myotomy (POEM) (effective across subtypes; monitor for reflux)
Selected or temporary options
• Botulinum toxin injection (short-term relief; frail or high-risk patients)
• Pharmacologic therapy (limited role; rarely definitive)
References:
https://pubmed.ncbi.nlm.nih.gov/32773454/