Esophageal achalasia usually sets in between the second and the sixth decade of life. Onset is insidious and symptoms gradually become more severe.

Patients present with dysphagia [1] for both solids and liquids [2], which differentiates it from dysphagias that only involve solids and are characteristic of tumors of the gastroesophageal junction. Regurgitation of food and saliva is another trait of this disease. Affected individuals also describe nocturnal regurgitation that may lead to aspiration. Substernal chest pain associated with meals leads to progressively diminished amounts of ingested food and weight loss [3]. Additional symptoms include heartburn [4] and nocturnal cough caused by acid reflux or retention of food in the esophagus [5].

Affected individuals may also seek medical attention for symptoms of candida esophagitis, esophageal carcinoma or aspiration pneumonia.

The clinical examination in uncomplicated esophageal achalasia does not detect pathologic elements [6].

• Weight Loss

  We describe a case of third-trimester weight loss due to the nausea and vomiting of achalasia. Pneumatic dilation of the esophagus is often necessary to improve oral intake. [ncbi.nlm.nih.gov]

• Cough

  A 12-year-old girl presented with cough, emesis, and weight loss of 18-month duration. She was diagnosed as having achalasia of the esophagogastric junction. [ncbi.nlm.nih.gov]

• Non-Cardiac Chest Pain

  The chest pain experienced, also known as cardiospasm and non-cardiac chest pain can often be mistaken for a heart attack. It can be extremely painful in some sufferers. [en.wikipedia.org]

  Oesophageal hypercontraction NUTCRACKER OESOPHAGUS “Nutcracker oesophagus” is a term coined by Castell and colleagues for the condition in which patients with non-cardiac chest pain and/or dysphagia exhibit peristaltic waves in the distal oesophagus with [doi.org]

• Productive Cough

  An 11-year-old boy presented with a 9-month history of frequent pneumonia, productive cough, and a 1-year history of chest discomfort and odynophagia. Chest radiograph showed changes compatible with aspiration. [ncbi.nlm.nih.gov]

• Dysphagia

  EA must be considered in any DS patient presenting with dysphagia. [ncbi.nlm.nih.gov]

  Consequently, a myotomy is more difficult, a mucosal perforation occurs more frequently, and the relief of dysphagia is less predictable. [web.archive.org]

  Patients present with dysphagia for both solids and liquids, which differentiates it from dysphagias that only involve solids and are characteristic of tumors of the gastroesophageal junction. [symptoma.com]

• Dysphagia

  EA must be considered in any DS patient presenting with dysphagia. [ncbi.nlm.nih.gov]

  Consequently, a myotomy is more difficult, a mucosal perforation occurs more frequently, and the relief of dysphagia is less predictable. [web.archive.org]

  Patients present with dysphagia for both solids and liquids, which differentiates it from dysphagias that only involve solids and are characteristic of tumors of the gastroesophageal junction. [symptoma.com]

• Regurgitation

  Regurgitation of food and saliva is another trait of this disease. Affected individuals also describe nocturnal regurgitation that may lead to aspiration. [symptoma.com]

  O's pneumonia has been related to regurgitation of retained food and fluids, and her weight loss is related to dysphagia and regurgitation of both solid food and liquids secondary to esophageal achalasia. 1 She can no longer eat or drink without extreme [journals.lww.com]

  As the esophagus becomes wider and weaker, symptoms can include: Difficulty swallowing food, a condition called dysphagia Food or liquid flowing back up into the throat, or regurgitation Waking up at night from coughing or choking because of regurgitation [choc.org]

  Most patients experience severe dysphagia, and regurgitation can lead to aspiration and respiratory problems. Consequently, the quality of life of patients affected by achalasia is severely impacted. [ncbi.nlm.nih.gov]

• Choking

  As the esophagus becomes wider and weaker, symptoms can include: Difficulty swallowing food, a condition called dysphagia Food or liquid flowing back up into the throat, or regurgitation Waking up at night from coughing or choking because of regurgitation [choc.org]

  Achalasia causes symptoms of coughing, choking, regurgitation, dysphagia and food retention in the esophagus. [hopkinsmedicine.org]

  She denied heartburn, regurgitation, choking or coughing during eating, chest pain, vomiting, abdominal pain, or change in bowel habits. Her medications included levothyroxine, metoprolol, pantoprazole, and warfarin. [jnmjournal.org]

• Regurgitation of Undigested Food

  The major symptoms of esophageal achalasia are dysphagia, chest pain, and regurgitation of undigested food. Currently, treatment options mainly focus on relief of the symptoms by reducing the LES pressure. [clinicaltrials.gov]

  Patients gradually develop dysphagia for both solids and liquids, and about one third regurgitate undigested food at night. [merckmanuals.com]

  Symptoms of achalasia include difficulty swallowing (dysphagia), regurgitation of undigested food, chest pain that may be perceived as heartburn, and occasionally respiratory complications such as hoarseness or pneumonia from aspirating retained food [columbiasurgery.org]

• Chest Pain

  Esophageal achalasia is a neurogenic motor abnormality with the loss of normal peristalsis and insufficient relaxation of the lower esophageal sphincter, leading to dysphagia and chest pain, with no response to proton pump inhibitor therapy. [symptoma.com]

• Retrosternal Chest Pain

  Features which present in the early stages of the disease may be similar to that of gastro-oesophageal reflux, including retrosternal chest pain typically after eating and heartburn[ 11 ]. [doi.org]

  Subsequent weight loss is common, as is retrosternal chest pain, reflux, and regurgitation of undigested food. 1 Contrast esophagram, endoscopy, and esophageal manometry are the tests of choice for diagnosing achalasia. [laparoscopy.blogs.com]

• Halitosis

  Halitosis is a very nonspecific sign that may suggest advanced achalasia or longterm obstruction, with accumulation of slowly decomposing residues in the esophageal lumen. [worldgastroenterology.org]

• Anhidrosis

  We report a patient who developed subacute facial-predominant numbness and anhidrosis, oral incoordination, and esophageal achalasia with resultant cachexia. [ncbi.nlm.nih.gov]

• Petechiae

  […] lax, elongated, tortuous − Uncoordinated, nonpropulsive, or absent contractions − Diverticulumlike pouch above the LES − Increased resistance to cardial intubation − Mucosal changes due to food retention: padlike thickening of the mucosa, erythema, petechiae [gastrointestinalatlas.com]

• Subcutaneous Emphysema of the Neck

  Minor subcutaneous emphysema around the neck was observed in one patient. POEM was successfully completed, and tracheas were extubated immediately after the procedure in all patients. [ncbi.nlm.nih.gov]

Tests which are valuable when trying to establish the diagnosis of esophageal achalasia: barium esophagogram, upper gastrointestinal endoscopy, and esophageal manometry.

Barium esophagogram establishes the morphology of the esophagus and the esophagogastric junction and evaluates the peristalsis. The esophagus can be dilated, angulated or tortuous and a narrow gastroesophageal junction with "bird neck" appearance has been described. Barium emptying is impaired and prolonged [7] [8].

Esophageal manometry shows the lack of normal peristalsis [9] with improper lower esophageal sphincter relaxation [10] leading to inadequate emptying in the absence of an obstruction. The esophagus may be atonic or non-contractile. Sphincter relaxation may be impaired completely, partially or not at all [11] [12]. On the other hand, esophageal pressure may be increased in all esophageal areas.

Upper gastrointestinal endoscopy is used in cases where a mechanical obstruction cannot be excluded [13], especially since achalasia symptoms may overlap with those of an infiltrative neoplasm. When trying to enter the stomach, a pressure described as a “pop” may be felt by the endoscopist while passing through the gastroesophageal junction. Finding food or saliva above the gastroesophageal junction is pathognomonic for achalasia. Endoscopic ultrasound is especially useful if a neoplasm is suspected. Furthermore, the mucosal examination is important in differentiating achalasia from acid reflux disease, peptic strictures and candida infection [5]. Endoscopy is especially useful in patients with systemic sclerosis, where manometry also shows abnormal peristalsis.

High-resolution manometry allows a more precise diagnosis of achalasia subtype. Chest X-ray may describe chronic pneumonia due to aspiration and a small or absent gastric air bubble. The trachea may be pushed anteriorly or may be bowed, due to compression by the dilated esophagus. Computer tomography is indicated if complications are suspected, as it identifies areas of mucosal thickening. Esophageal pH measurement is important in ruling out acid reflux disease [14].

Blood workup often shows no abnormal findings.

• Esophageal Motility Disorder

  A number of 41 patients had other esophageal motility disorders and 8 patients had normal esophageal manometry. [ncbi.nlm.nih.gov]

  Other less common dysmotility disorders include spastic esophageal motility disorder (nutcracker esophagus and diffuse esophageal spasm), inefficient esophageal motility disorder, and secondary esophageal motility disorders, which are related to other [ctsurgerypatients.org]

• Right Pleural Effusion

  Plain radiography of the chest revealed widening of the mediastinum (attributed to esophageal achalasia), pneumonia, and right pleural effusion. According to the properties of the pleural fluid, empyema was diagnosed. [ncbi.nlm.nih.gov]

• Posterior Mediastinal Mass

  We present a patient with severe decompensated esophageal achalasia in whom transthoracic echocardiography revealed compression of the left heart chambers caused by the dilated esophagus representing a posterior mediastinal mass. [ncbi.nlm.nih.gov]

The optimal treatment option is an ongoing matter of debate. In this review, we provide an update of the current progress in the treatment of esophageal achalasia. [ncbi.nlm.nih.gov]

Treatment Treatment is palliative, and it is directed toward elimination of the outflow resistance at the level of the gastroesophageal junction. [web.archive.org]

Overall, the self-expanding, 30-mm metallic stents were associated with better long-term clinical efficacy in the treatment of patients with achalasia than treatment with PD. [doi.org]

Endoscopic ultrasound (EUS) is considered a useful adjunct for grading and establishing the prognosis of these patients. [ncbi.nlm.nih.gov]

[…] without abnormal pressure) having an intermediate prognosis (81%) that is inversely associated with the degree of esophageal dilatation. [jama.jamanetwork.com]

The etiology of achalasia is poorly understood. Achalasia occurs across the lifespan, but is uncommon in children. Most patients have progressive dysphagia for both liquids and solids. [ncbi.nlm.nih.gov]

— Peer-reviewed publications located via MEDLINE using the search term esophageal achalasia (subheadings: complications, drug therapy, epidemiology, etiology, physiopathology, surgery, and therapy ) published in English from 1966 to December 1997. [jama.ama-assn.org]

Epidemiological data are controversial due to different methodologies applied, the regional differences and the number of patients involved. [ncbi.nlm.nih.gov]

— Peer-reviewed publications located via MEDLINE using the search term esophageal achalasia (subheadings: complications, drug therapy, epidemiology, etiology, physiopathology, surgery, and therapy ) published in English from 1966 to December 1997. [jama.ama-assn.org]

The pathophysiology of this phenomenon has not been fully defined. A fully documented case of coexistent esophageal achalasia and upper esophageal sphincter relaxation abnormality presenting with airway obstruction is reported. [ncbi.nlm.nih.gov]

From the following article Pathophysiology of achalasia and diffuse esophageal spasm Ikuo Hirano GI Motility online (2006) doi :10.1038/gimo22 BACK TO ARTICLE Barium swallow illustrating spiral or "corkscrew" deformity of the tubular esophagus caused [nature.com]

— To review the pathophysiology and management of achalasia. [jama.ama-assn.org]

Retained contents in the esophagus were evacuated just before anesthesia induction to prevent regurgitation into the trachea. The POEM procedure was performed using an orally inserted flexible fiberscope. [ncbi.nlm.nih.gov]

After surgery or some procedures, proton pump inhibitors (PPIs) may help prevent gastric acid secretion, and this can prevent reflux. [medicalnewstoday.com]

Although achalasia cannot be prevented, treatment can prevent long-term complications. Possible complications include: Aspiration pneumonia. [choc.org]

1. Francis DL, Katzka DA. Achalasia: update on the disease and its treatment. Gastroenterology. 2010;139:369–7474.
2. Eckardt AJ, Eckardt VF. Treatment and surveillance strategies in achalasia: an update. Nat Rev Gastroenterol Hepatol. 2011;8:311–319.
3. Richter JE. The diagnosis and misdiagnosis of Achalasia: it does not have to be so difficult. Clin Gastroenterol Hepatol. 2011;9:1010–1011.
4. Kessing BF, Bredenoord AJ, Smout AJ. Erroneous diagnosis of gastroesophageal reflux disease in achalasia. Clin Gastroenterol Hepatol. 2011;9:1020–1024.
5. Vaezi MF, Richter JE. Diagnosis and management of achalasia. American College of Gastroenterology Practice Parameter Committee. Am J Gastroenterol. 1999;94:3406-3412
6. Ferri LE, Cools-Lartigue J, Cao J, et al. Clinical predictors of achalasia. Dis Esophagus. 2010;23(1):76-81.
7. de Oliveira JM, Birgisson S, Doinoff C et al. Timed barium swallow: a simple technique for evaluating esophageal emptying in patients with achalasia. AJR Am J Roentgenol 1997;169:473–479.
8. Andersson M, Lundell L, Kostic S et al. Evaluation of the response to treatment in patients with idiopathic achalasia by the timed barium esophagogram: results from a randomized clinical trial. Dis Esophagus 2009;22:264–273.
9. Pandolfino JE, Kwiatek MA, Nealis T et al. Achalasia: a new clinically relevant classification by high-resolution manometry. Gastroenterology 2008;135:1526–1533.
10. Pandolfino JE, Kahrilas PJ. AGA technical review on the clinical use of esophageal manometry. Gastroenterology. 2005;128:209–224.
11. Morera C, Nurko S. Heterogeneity of lower esophageal sphincter function in children with achalasia. J Pediatr Gastroenterol Nutr. 2012;54:34–40.
12. Galey KM, Wilshire CL, Niebisch S et al. Atypical variants of classic achalasia are common and currently under-recognized: a study of prevalence and clinical features. J Am Coll Surg. 2011;213:155–161.
13. Dodds WJ, Stewart ET, Kishk SM et al. Radiologic amyl nitrite test for distinguishing pseudoachalasia from idiopathic achalasia. AJR Am J Roentgenol. 1986;146:21–23.
14. Patti MG, Arcerito M, Tong J, et al. Importance of preoperative and postoperative pH monitoring in patients with esophageal achalasia. J Gastrointest Surg. 1997 Nov-Dec; 1(6):505-10.