Novel association of achalasia with hereditary sensory and motor neuropathy with sensorineural deafness

A.K. Asthana, J.S. Lubel, G. P. Kohn

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Achalasia is a primary esophageal motility disorder. Unlike diffuse esophageal spasm, it has not previously been described in association with hereditary sensory and motor neuropathy (HSMN). An 18-year-old-male with HSMN with sensorineural deafness presented with a 2-day history of dysphagia to solids and liquids. Achalasia was diagnosed after extensive investigations, and his symptoms resolved with endoscopic and definitive surgical management. His monozygotic twin brother had also been diagnosed with HSMN and suffered from chronic dysphagia, which was also subsequently diagnosed with achalasia. This is the first case to illustrate an association between HSMN with sensorineural deafness and achalasia.

Original languageEnglish
Pages (from-to)691-694
Number of pages4
JournalDiseases of the Esophagus
Issue number6
Publication statusPublished - 1 Aug 2016

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