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Disease Profile

Idiopathic achalasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

K22.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Esophageal achalasia; Primary achalasia; Achalasia cardia;

Categories

Digestive Diseases

Summary

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]

Symptoms

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]

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.

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

Cause

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]

Diagnosis

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]

Treatment

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]

Organizations

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

    Organizations Providing General Support

      Learn more

      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.

          References

          1. Achalasia. International Foundation for Functional Gastrointestinal Disorders. April 28, 2015; https://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; https://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. https://www.ncbi.nlm.nih.gov/pubmed/25965233.
          4. Dugdale DC, Longstreth GF. Achalasia. MedlinePlus. 10/27/2015; https://www.nlm.nih.gov/medlineplus/ency/article/000267.htm.
          5. Gaumnitz EA. Esophageal Motility Disorders. eMedicine. December 29, 2015; https://emedicine.medscape.com/article/174783-overview.
          6. DiMarino MC. Motility Disorders. Merck Manuals Online Medical Library. March 2008; https://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:https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-38.

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