National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Idiopathic achalasia


Other Names:
Esophageal achalasia; Primary achalasia; Achalasia cardia; Esophageal achalasia; Primary achalasia; Achalasia cardia; Idiopathic achalasia of esophagus; Achalasia See More
Categories:
Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax.[1] Achalasia is typically diagnosed in individuals between 25 and 60 years of age. The exact etiology is unknown, however, symptoms are caused by damage to the nerves of the esophagus.[2] Familial studies have shown evidence of a potential genetic influence. When a genetic influence is suspected, achalasia is called familial esophageal achalasia. Treatment is aimed at reducing the pressure at the lower esophageal sphincter and may include Botox, medications, or surgery.[3]
Last updated: 3/15/2016
Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non esophageal symptoms might include: coughing or asthma, chronic aspiration (breathing a foreign object such as food into the airway), hoarseness or sore throat, and unintentional weight loss.[3]
Last updated: 3/15/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
30%-79% of people have these symptoms
Bronchitis 0012387
Chest pain 0100749
Cough
Coughing
0012735
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Weight loss 0001824
5%-29% of people have these symptoms
Decreased prealbumin level 0031085
Malnutrition 0004395
Recurrent aspiration pneumonia 0002100
Wheezing 0030828
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Last updated: 7/1/2020
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.[4] The reason for this problem is damage to the nerves of the esophagus.[4][5] In some people, this problem appears to be inherited.[4] There is additionally a suspected autoimmune component involved in the development of achalasia as individuals with achalasia are more likely to have a concomitant autoimmune disease than the general population.[3] 
Last updated: 3/15/2016
Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication. 

The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); however, other tests such as upper endoscopy and upper GI X-ray can additionally be useful.[4][2]
Last updated: 3/15/2016
The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve:[4][6][5]

  • 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.[4]
Last updated: 7/20/2011
Although there is no cure for achalasia, treatment options are estimated to be effective in 90% of cases. Without treatment, individuals with achalasia develop progressive dilation of the esophagus. This then leads to late or end-stage achalasia, characterized by esophageal tortuosity (twisting and turning), angulation, and severe dilation.

Approximately 10-15% of individuals who have undergone treatment will progress to late or end-stage achalasia. Treatment for late or end-stage achalasia is typically esophagectomy (surgery to remove all or part of the esophagus).[2][7]
Last updated: 3/15/2016

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
A majority of patients are misdiagnosed as having reflux disease given regurgitation. The differential diagnosis of a patient with dysphagia and regurgitation includes GERD, esophageal spasm, pseudoachalasia (associated to malignancies), and possibly eosinophilic esophagitis (see this term).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Idiopathic achalasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Esophageal Motility Disorders
    Achalasia Imaging
  • The Merck Manual for health care professionals provides information on Idiopathic achalasia.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Idiopathic achalasia. Click on the link to view a sample search on this topic.
  • UpToDate has an article on Idiopathic achalasia. Click on UpToDate to view the page.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My husband has esophageal adenocarcinoma. They are blaming acid reflux. However, his mother has had acahlasia. He thought he had it too but was never diagnosed. When he was a child he would have vomiting episodes. He grew out of it. Our daughter also had lots of vomiting episodes as well as migraines. She is now much healthier. I am concerned for her future health and would like to educate myself more if achalasia is hereditary and if it is linked to anything else of concern. See answer

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


  1. Achalasia. International Foundation for Functional Gastrointestinal Disorders. April 28, 2015; http://www.aboutgimotility.org/site/about-gi-motility/disorders-of-the-esophagus/achalasia.
  2. Stuart J Sechler. Clinical Manifestations and diagnosis of achalasia. UpToDate. February 24, 2016; http://www.uptodate.com/contents/achalasia-beyond-the-basics#H1.
  3. John E. Pandolfino, Andrew J. Gawron. Achalasia A Systematic Review. JAMA. May 12, 2015; 313(18):1841-1852. http://www.ncbi.nlm.nih.gov/pubmed/25965233.
  4. Dugdale DC, Longstreth GF. Achalasia. MedlinePlus. 10/27/2015; http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm.
  5. Gaumnitz EA. Esophageal Motility Disorders. eMedicine. December 29, 2015; http://emedicine.medscape.com/article/174783-overview.
  6. DiMarino MC. Motility Disorders. Merck Manuals Online Medical Library. March 2008; http://www.merckmanuals.com/professional/sec02/ch012/ch012e.html?qt=Achalasia&alt=sh. Accessed 7/20/2011.
  7. Farnoosh Farrokhi, Michael F. Vaezi. Idiopathic (primary) achalasia. Orphanet Journal of Rare Disease. September 26, 2007; 2:38:http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-38.