Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). The clinical manifestations include dysphagia for both solids and liquids, regurgitation of esophageal contents, retrosternal chest pain, cough, aspiration, weight loss and heartburn. Even though idiopathic achalasia was first described more than 300 years ago, researchers are only now beginning to unravel its complex etiology and molecular pathology. The most recent findings indicate an autoimmune component, as suggested by the presence of circulating anti-myenteric plexus autoantibodies, and a genetic predisposition, as suggested by observed correlations with other well-defined genetic syndromes such as Allgrove syndrome and multiple endocrine neoplasia type 2 B syndrome. Viral agents (herpes, varicella zoster) have also been proposed as causative and promoting factors. Unfortunately, the therapeutic approaches available today do not resolve the causes of the disease, and only target the consequential changes to the involved tissues, such as destruction of the LES, rather than restoring or modifying the underlying pathology. New therapies should aim to stop the disease at early stages, thereby preventing the consequential changes from developing and inhibiting permanent damage. This review focuses on the known characteristics of idiopathic achalasia that will help promote understanding its pathogenesis and improve therapeutic management to positively impact the patient’s quality of life.

Background and study aims  The efficacy of per oral endoscopic myotomy (POEM) in non-achalasia esophageal motility disorders such as esophagogastric junction outflow obstruction (EGJOO), diffuse esophageal spasm (DES), and jackhammer esophagus (JE) has not been well demonstrated. The aim of this international multicenter study was to assess clinical outcomes of POEM in patients with non-achalasia disorders, namely DES, JE, and EGJOO, in a large cohort of patients. Patients and methods  This was a retrospective study at 11 centers. Consecutive patients who underwent POEM for EGJOO, DES, or JE between 1/2014 and 9/2016 were included. Rates of technical success (completion of myotomy), clinical response (symptom improvement/Eckardt score ≤ 3), and adverse events (AEs, severity per ASGE lexicon) were ascertained . Results  Fifty patients (56 % female; mean age 61.7 years) underwent POEM for EGJOO (n = 15), DES (n = 17), and JE (n = 18). The majority of patients (68 %) were treatment-naïve. Technical success was achieved in all patients with a mean procedural time of 88.4 ± 44.7 min. Mean total myotomy length was 15.1 ± 4.7 cm. Chest pain improved in 88.9 % of EGJOO and 87.0 % of DES/JE ( P  = 0.88). Clinical success was achieved in 93.3 % of EGJOO and in 84.9 % of DES/JE ( P  = 0.41) with a median follow-up of 195 and 272 days, respectively. Mean Eckardt score decreased from 6.2 to 1.0 in EGJOO ( P  < 0.001) and from 6.9 to 1.9 in DES/JE ( P  < 0.001). A total of 9 (18 %) AEs occurred and were rated as mild in 55.6 % and moderate in 44.4 %. Conclusion  POEM is effective and safe in management of non-achalasia esophageal motility disorders, which include DES, JE, and EGJOO.

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