$Unique_ID{BRK03410} $Pretitle{} $Title{Achalasia} $Subject{Achalasia Cardiospasm Dyssynergia Esophagus Esophageal Aperistalsis Megaesophagus Gastroesophageal Reflux Hiatal Hernia} $Volume{} $Log{} Copyright (C) 1986, 1993 National Organization for Rare Disorders, Inc. 118: Achalasia ** IMPORTANT ** It is possible that the main title of the article (Achalasia) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Cardiospasm Dyssynergia Esophagus Esophageal Aperistalsis Megaesophagus Information on the following diseases can be found in the Related Disorders section of this report: Gastroesophageal Reflux Hiatal Hernia General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Achalasia is a rare disorder of the esophagus characterized by the abnormal enlargement of the esophagus, impairment of the ability of the esophagus to push food down toward the stomach (peristalsis), and the failure of the ring-shaped muscle (sphincter) at the bottom of the esophagus to relax. Symptoms The symptoms of Achalasia typically appear gradually. People with this disorder may initially experience an impairment in the ability to swallow (dysphagia). Early symptoms of this disorder may include mild pain in the chest that comes and goes. Others may experience pain that is overwhelming and agonizing. The contents of the stomach may be brought up (regurgitated) or be propelled into the lungs while breathing (tracheobronchial aspiration). Regurgitation of stomach contents is reported in approximately one-third of people with Achalasia. Other symptoms of this disorder may include a cough during the night and significant weight loss in cases that remain untreated. The aspiration of stomach contents in people with Achalasia may cause pneumonia and other pulmonary infections. Cancer of the esophagus may occur in approximately 5 percent of cases of Achalasia. X-ray examination (radiology) is frequently useful in the diagnosis of Achalasia. Radiological examination, especially with the use of barium, may show enlargement (dilation) of the esophagus and the retention of food and secretions within the esophagus. Devices that measure fluid pressure (manometric examination) within the esophagus may also be useful in the diagnosis of this disorder. Stimulation of the esophagus with drugs or examination with an illuminated optic instrument (endoscopy) are not advised when Achalasia is suspected. Causes The exact cause of Achalasia is not known. The condition may be caused by degeneration of a group of nerves located in the chest (Auerbach's plexus). It has been suggested that in some cases, Achalasia may be inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Achalasia is a rare disorder that typically affects adults between the ages of 20 and 40 years. However, this disorder may occur at any age. Achalasia affects males and females in equal numbers except in those cases that are thought to be inherited. In familial cases of Achalasia, males are twice as likely as females to be diagnosed with this disorder. Related Disorders Symptoms of the following disorders can be similar to those of Achalasia. Comparisons may be useful for a differential diagnosis: Gastroesophageal Reflux is a common gastrointestinal disorder characterized by the backward flow of the contents of the stomach and/or the small intestine into the mouth. The most common symptom of this disorder is a sensation of warmth or burning in the chest and/or neck area. This usually occurs at night. Patients may complain of wheezing at night, hoarseness, and a need to clear the throat repeatedly. There may also be a sensation of deep pressure at the base of the neck. (For more information on this disorder, choose "Gastroesophageal Reflux" as your search term in the Rare Disease Database.) Hiatal Hernia is a very common digestive disorder. Symptoms may include a flow back (reflux) of stomach contents into the esophagus (gastroesophageal reflux), pain and a burning sensation in the throat. The opening in the diaphragm becomes weakened and stretched, allowing a portion of the stomach to bulge through into the chest cavity. This disorder can easily be diagnosed through testing by a radiologist. Therapies: Standard The treatment of Achalasia is aimed at removing obstructions caused by the failure of the lower esophageal sphincter muscle to relax. This may be done with the administration of drugs, physical enlargement (manual dilation) of the sphincter muscle, or through surgery. The drug isosorbide, (a long-acting nitrate) or nifedipine (a calcium channel blocker) may provide some relief for people with Achalasia. Approximately 85 percent of cases of Achalasia may be treated effectively by the enlargement of the lower esophageal sphincter muscle through a procedure known as balloon dilation. This is a complicated procedure. In some people, repeated dilations may be necessary to obtain relief of symptoms. Surgical treatment of Achalasia may be effective in approximately 85 percent of cases. During this procedure, the muscle fibers in the lower esophageal sphincter are cut (Heller myotomy). About 15 percent of people with Achalasia experience the symptoms of gastroesophageal reflux after this surgical procedure. Therapies: Investigational Please contact the agencies listed under the Resources section of this report for the most current information. This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Achalasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-2162 National Institute of Diabetes, Digestive & Kidney Disease Information Clearinghouse Box NCID Bethesda MD 20892 (301) 496-3583 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 92-94. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 643-646. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 747. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 641. PRIMARY TREATMENT OF ESOPHAGEAL ACHALASIA. LONG-TERM RESULTS OF MYOTOMY AND DOR FUNDOPLICATION: L. Bonavina; Arch Surg (Feb. 1992; 127(2)). Pp. 222- 226. ACHALASIA: NEW THOUGHTS ON AN OLD DISEASE: C.M. Farr; J Clin Gastroenterol (Jul 1992; 15(1)). Pp. 2-4.