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Disease Profile
Idiopathic achalasia
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
Age of onset
All ages
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
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
Diagnosis
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
- 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]
Related diseases
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.
|
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
-
Gastroparesis and Dysmotilities Association (GPDA)
5520 Dalhart Hill NW
Calgary, AB
T3A 1S9
Canada
Telephone: 403-247-3215
E-mail: [email protected]
Website: https://www.digestivedistress.com -
Guts UK!
3 St. Andrews Place
London, NW1 4LB
United Kingdom
Telephone: 020-7486-0341
E-mail: [email protected]
Website: https://gutscharity.org.uk/ -
Martin Mueller IV Achalasia Awareness Foundation, Inc
111 Hampton Meadows Dr
Bonaire, GA 31005
Telephone: (478) 293-1822
E-mail: [email protected]
Website: https://www.achalasiainfo.com/
Organizations Providing General Support
-
Association of Gastrointestinal Motility Disorders (AGMD)
140 Pleasant Street
Lexington, MA 02421
Telephone: +1-781-275-1300
E-mail: [email protected]
Website: https://www.agmdhope.org/ -
International Foundation for Functional Gastrointestinal Disorders (IFFGD)
3015 Dunes West Blvd. Suite 512
Mount Pleasant, SC 29466
Telephone: +1-414-964-1799
Website: https://iffgd.org/
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
- International Foundation for Functional Gastrointestinal Disorders has an overview of Idiopathic achalasia as well as more information for patients and their families.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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
- Achalasia. International Foundation for Functional Gastrointestinal Disorders. April 28, 2015; https://www.aboutgimotility.org/site/about-gi-motility/disorders-of-the-esophagus/achalasia.
- Stuart J Sechler. Clinical Manifestations and diagnosis of achalasia. UpToDate. February 24, 2016; https://www.uptodate.com/contents/achalasia-beyond-the-basics#H1.
- 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.
- Dugdale DC, Longstreth GF. Achalasia. MedlinePlus. 10/27/2015; https://www.nlm.nih.gov/medlineplus/ency/article/000267.htm.
- Gaumnitz EA. Esophageal Motility Disorders. eMedicine. December 29, 2015; https://emedicine.medscape.com/article/174783-overview.
- 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.
- 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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