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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Esophageal achalasia
  • Primary achalasia
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Your Question

I have achalasia. What causes this condition? How might it be treated? Where can I learn about research related to this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes achalasia?

The lower esophageal sphincter, the ring-shaped muscle at the bottom of the esophagus, normally relaxes during swallowing. In people with achalasia, this muscle ring does not relax as well.[1] The reason for this problem is damage to the nerves of the esophagus.[1][2] In some people, this problem appears to be inherited.[1]
Last updated: 7/20/2011

How might achalasia be treated?

The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve:[1][3][2]

  • Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix) 
  • Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium channel blockers (i.e. nifedipine), to relax the lower esophagus sphincter
  • Surgery (Heller myotomy) to decrease the pressure in the lower sphincter
  • Pneumatic balloon dilation of the esophagus at the location of the narrowing (done during esophagogastroduodenoscopy)
You can learn more about these treatment options by clicking on the following links:
eMedicine Esophageal Motility Disorders
Merck Manuals Motility Disorders

A doctor should help to determine the best treatment for each individual situation.[1]
Last updated: 7/20/2011

How can I learn about research related to achalasia?

ClinicalTrials.gov lists trials that are studying or have studied achalasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling 800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 1-800-411-1222
Fax: 301-480-9793
E-mail: prpl@mail.cc.nih.gov
Web site:http://clinicalcenter.nih.gov/
Last updated: 7/20/2011

References