Familial esophageal achalasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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. 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. 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.Familial esophageal achalasia refers to a cluster of
Last updated: 3/15/2016
- Achalasia. MedlinePlus. October 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000267.htm.
- Marco Ettore Allaix, MD, PhD. Achalasia. Medscape Reference. December 2015; http://reference.medscape.com/article/169974-overview.
- Torab FC, Hamchou M, Ionescu G, Al-Salem AH. Familial achalasia in children. Pediatr Surg Int. December 2012; 28(12):1229-1233.
- 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.