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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial esophageal achalasia


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Overview

Familial esophageal achalasia refers to a cluster of achalasia within a family. Achalasia is a condition that affects the esophagus, the tube that carries food from the mouth to the stomach. In people with achalasia, the normal muscle activity of the esophagus is reduced and the muscular valve where the esophagus and the stomach meet doesn't fully relax. This makes it difficult for food to move from the esophagus to the stomach. As a result, people with achalasia may experience regurgitation of food, chest pain, cough, difficulty swallowing, heartburn, and/or unintentional weight loss.[1][2] Reports of familial esophageal achalasia are rare and represent less than 1% of all achalasia cases. In these families, the underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner.[3] Treatment aims to allow food to pass more easily into this stomach and may include injections with botulinum toxin (Botox), certain medications and/or surgery.[1][2]
Last updated: 3/15/2016

References

  1. Achalasia. MedlinePlus. October 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000267.htm.
  2. Marco Ettore Allaix, MD, PhD. Achalasia. Medscape Reference. December 2015; http://reference.medscape.com/article/169974-overview.
  3. Torab FC, Hamchou M, Ionescu G, Al-Salem AH. Familial achalasia in children. Pediatr Surg Int. December 2012; 28(12):1229-1233.
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Basic Information

  • Mayo Clinic has an information page on Familial esophageal achalasia.
  • 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 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.
  • 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Familial esophageal achalasia. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.