National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Achalasia is not the name you expected.
Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by enlargement of the esophagus, impaired ability 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 (LES), to relax. It is the contraction and relaxation of the sphincter that moves food through the tube.
The symptoms of achalasia typically appear gradually. Most people with this disorder experience an impairment in the ability to swallow (dysphagia) as a major and early symptom. There may also be mild chest pain that comes and goes. Some affected individuals experience pain that is very intense.
Retention of saliva and ingested food in the esophagus may often cause regurgitation of these contents; in addition, such contents may also be propelled into the lungs during breathing (tracheobronchial aspiration). Other symptoms of this disorder may include a cough during the night and significant weight loss, because of difficulty in swallowing, in cases that remain untreated. Dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) are not unusual in patients with achalasia.
The aspiration of saliva and food contents by people with achalasia may cause pneumonia, other pulmonary infections, or even death. Cancer of the esophagus occurs in approximately 5 percent of cases of achalasia.
The exact cause of achalasia is not known. Some clinical researchers suspect that the condition may be caused by the degeneration of a group of nerves located in the chest (Auerbach's plexus). It is believed that there may be a rare, inherited form of achalasia, but this is not yet well understood at this time.
Achalasia is a rare disorder that typically affects adults between the ages of 25 and 60 years. However, this disorder may occur at any age, including during childhood. Achalasia affects males and females in equal numbers except in cases that appear to reflect an inherited form. In those cases, it appears that males are twice as likely as females to be diagnosed with this disorder.
Symptoms of the following disorders can be similar to those of achalasia. Comparisons may be useful for a differential diagnosis:
The symptoms of esophageal cancer resemble those associated with achalasia. Esophageal cancer may begin at almost any point in the tube. Small cancers may be asymptomatic or may be present without symptoms. As the tumor grows, the first sign may be difficulty in swallowing and/or pain upon swallowing and/or feeling as if food were stuck behind the breastbone. Difficulty in swallowing may be accompanied by indigestion, heartburn and choking. Weight loss is not uncommon.
Swallowing disorders come in a variety of forms. Some are the result of disturbances of the brain such as Parkinson's disease, multiple sclerosis or amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease). Others are the result of malfunctioning of parts of the throat involved in swallowing. For example, the pharynx may malfunction after a stroke.
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 (manometers) within the esophagus may also be useful in the diagnosis of this disorder.
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, expanding the cross-section (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.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
As of the summer of 2006, there were 3 clinical studies involving aspects of esophageal achalasia listed on www.clinicaltrials.gov.
One of these is designed to compare the effectiveness of treating the malfunctioning sphincter muscle surgically (laparoscopic myotomy) with that of the physical dilation of the muscle. This trial is sponsored by the University Health Network of the University of Toronto. The clinical trials identifier number is NCT00188344.
Another trial is being sponsored by the Heart, Lung, Esophageal Surgery Institute of the University of Pittsburgh and is designed to identify markers in the blood and tissue that may identify risk factors in the development and progression of esophageal cancer. The clinical trials identifier for this study is NCT00260585.
A third trial is designed to compare the accuracy of esophageal and anorectal manometric pressure measurements using a newly developed air-filled balloon catheter compared to measurements using the standard solid state manometers. This study is being carried out at the University of Utah. The clinical trial identifier for this study is NCT00204763.
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FROM THE INTERNET
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Last Updated: 6/9/2015
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