Treatments for achalasia, similar to other esophageal disorders, focus on relieving symptoms [66], and there is no curative therapy. Apart from relieving symptoms, the goals of treatment are to improve esophageal emptying and to prevent the development of megaesophagus [67]. The three primary types of treatment are pharmacologic, endoscopic, and surgical. They all are directed at improving esophageal emptying by decreasing the LES pressure. The therapy of choice in children is still debated [68]. Proper treatment of achalasia is important to prevent progression toward dilated megaesophagus where esophagectomy may become inevitable. Barium esophagogram can help monitor success of the treatment plan.

Pharmacologic treatments include nitrates, calcium channel blockers, and phosphodiesterase inhibitors. Although significant decrease of lower esophageal sphincter pressure has been observed by manometry, symptom improvement occurred in 53–87 % of patients [69]. In some cases, these medications are used temporarily while determining a more effective means of treatment. Pharmacologic interventions are also the treatment of choice for patients who are not candidates for or do not wish to receive more aggressive therapy. These medications have frequent side effects (headache, hypotension). Experience in children is limited to calcium channel blockers and nitrates and consists mainly of case reports [70–72]. Isosorbide dinitrate patch (long acting nitrate) has been reported in an 8-year-old [71] with good short-term success. Nifedipine (10 mg) before meal was used in four adolescents with good clinical response and a decrease of LES pressure on manometry, but there was recurrence of symptoms when the medication was stopped [70]. Long-term pharmacologic therapy is not actually recommended. Short use can be useful while waiting for definitive therapy (establishing weight gain, awaiting school vacation).

Endoscopic therapies include botulinum toxin injection (BTI) into the LES, pneumatic dilation (PD), stenting, and the newest per oral endoscopic myotomy (POEM). The use of intrasphincteric botulinum toxin was first reported by Pasricha et al. [73]. This potent neurotoxin blocks the release of acetylcholine at the neuromuscular junction leading to decreased LES pressure. A double-blind placebo-controlled trial demonstrated a good initial response in adults [74]. BTI is widely used as an initial endoscopic therapy in achalasia in older adults [75]. Long-term results show that it is necessary to repeat injection and the response decreases with repeated injections [76]. Experience in children is once again limited to retrospective case series [77–80], but shows similar results of good initial clinical response and high rate of recurrence. The data are however insufficient to conclude to the same certitude as in the adult population. BTI can also be used as a diagnostic tool in patients with early and unclear diagnosis [81]. However, submucosal fibrosis resulting from intrasphincteric injections may complicate the subsequent surgical myotomy [82].

Esophageal dilation is the oldest treatment modality [43]. Balloon PD is preferred over rigid bougienage because it is thought to permit a controlled tearing of the muscle fibers, even though it was not proven in animal studies [83]. It is less invasive than surgical treatment and is considered the most effective nonsurgical treatment of achalasia in adults [84, 85] and the first-line treatment in some pediatric centers [68]. A Cochrane review concluded that PD was more effective than BTI in the long term [86]. The main complication is esophageal perforation which was reported in 1.6 % of patients [84, 85]. Long-term efficacy of PD ranges from 40 to 60 % [87–89]. Pediatric results are variable and difficult to compare because of the nonstandardization of the technique [44]. PD can also serve as a rescue therapy after an incomplete myotomy [49].

Temporary self-expanding metallic stent is a therapeutic option that has been described but is rarely used. Use in patients as young as 12 years old has been described, but more studies and long-term experience is needed before recommending it [90].

With the advent of natural orifice transluminal endoscopic surgery in 2004, new techniques were developed in the animal laboratory to perform typical laparoscopic procedures by endoscopy through natural orifice. A primary focus of research in that field was to ensure secure closure of the transluminal access track that is used to enter the mediastinum or peritoneal cavity [91]. The first human endoscopic LES myotomy for achalasia was performed by Inoue in 2008, in Yokohama, Japan. He called it POEM in his presentation at Digestive Disease Week 2009 [92]. The technique consists of a flexible endoscopy with CO₂ insufflation to perform an esophageal mucosotomy followed by a submucosal tunnel all the way to the gastric cardia to realize a longitudinal incision in the inner circular muscle. The mucosotomy is closed with multiple endoscopic clips. The technique requires general anesthesia, advanced endoscopic expertise, and availability of surgical back up. Since the first reported experience, multiple centers started to use this technique worldwide, and the experience is growing exponentially. The technique appears to be a safe and effective treatment for achalasia. Reported adverse events were caused by infection, bleeding, or gas diffusion in the thorax, abdomen, or subcutaneous tissue [93]. Use of carbon dioxide has decreased the incidence of the gas complications, but decompressive aspiration with a needle is often required [94]. Even with the absence of hiatal attachments, dissection, and disruption of the angle of His, posttreatment gastroesophageal reflux is frequent (15–29 %) [95]. With the limited follow-up of this newly described technique, accumulating data suggest POEM efficacy at least similar to that of LHM [95, 96] even on the long term, with 88.5 % overall success rate at 3 years [97]. The longer myotomy length with POEM could improve the rate of success to greater than 90 % in patients with type III achalasia [98]. POEM is also feasible in children. Several case series of successful POEM have been reported in the pediatric population [99–101]. The largest pediatric series of 27 children aged between 6 and 17 years old reported feasibility of 96.3 % and treatment success in all cases with a mean follow-up of 25.6 months (range 15–48 months) [102].

Surgical treatment usually consists of a longitudinal division of the muscle fibers of the LES and proximal stomach coupled or not with antireflux procedure. The name of Heller myotomy comes from the first description of this procedure by Ernest Heller in 1913 [66]. Laparoscopic Heller myotomy (LHM) is now the most commonly performed surgical treatment of achalasia because it reduces the morbidity compared to the open approach. It has been shown to be as effective as open approaches [103] and superior to the thoracoscopic approach [104, 105]. Clinical response after myotomy ranges from 83 to 100 % [106], and the benefits persist in 67–85 % in long-term (more than 10 years) studies [107, 108]. A meta-analysis concluded that LHM was the most effective surgical technique. It provides better symptom relief than all endoscopic and other surgical approaches with a low complication rate (6.3 %) [84]. Randomized controlled trials compared favorably LHM to PD [109–112]. It has been suggested that a more aggressive balloon dilatation results in comparable results to myotomy [113, 114]. A large multicentric randomized control trial in Europe comparing PD versus LHM with Dor’s fundoplication found no differences in terms of success rate, posttreatment LES pressure, esophageal emptying, or quality of life [115]. Clinical deterioration over time has been associated with GER [116] which has led to randomized controlled studies comparing Heller myotomy with and without fundoplication [117]. The different types of fundoplication have also been discussed and compared in randomized clinical trials [118, 119]. Based on long-term success rates of 47–82 % at 10 years, LHM with partial fundoplication is considered by many the surgical procedure of choice [84, 120, 121]. However, a study has reported that up to 30 % of myotomized patients will require retreatment within the first 12 years [122].

LHM has also been found safe and effective in children [123, 124]. Rates of good to excellent results of 90.9 % have been reported [125–127]. However, pediatric studies comparing LHM to PD show conflicting results [49, 68, 128–133]. As in the adult literature [134], the same surgical controversies exist which include extension of the myotomy [135, 136], addition of fundoplication [137], and type of fundoplication if performed. Complications after LHM include esophageal perforation, phrenic nerve paralysis, hemorrhage, and herniation of stomach. Long-term complications are persistent dysphagia and GER. The intraoperative use of endoscopy [138], esophageal manometry [139], and dilation under image guidance [140] has been suggested to decrease the rate of incomplete myotomy. It is important to emphasize that while myotomy should improve the bolus transit by reducing the LES pressure, ineffective peristalsis still remain an issue [141].

An approach to the child with persistent dysphagia after myotomy has been proposed since it is a frequent and debilitating problem [142]. Differential diagnosis of this problem include esophageal dysmotility, incomplete myotomy, fibrosis at the distal end of the myotomy, obstructive fundoplication, esophageal stricture, and preoperative misdiagnosis [143–145]. A thorough evaluation is the basis of management, starting with a good clinical history. Contrast esophagogram and esophageal manometry complete the initial work-up. Depending of the findings, endoscopy with PD may be indicated as the first therapeutic step. Surgical treatment is reserved for persistent significant obstruction of the distal esophagus [142].

The different subtypes of achalasia seem to have a prognostic value [60, 146]. Patients with type II have the best response (96 %) to PD or LHM; patients with type I have 81 % success, but this decreases as the pretreatment esophageal dilatation increases; patients with type III have the worst response (66 %) [146]. Others have questioned the clinical implication of the subtypes both based on clinical relief of symptoms and on improvement in esophageal clearance [147]. In children, correlation between the subtypes and the outcome is also not clear [64].

Different validated scoring systems have been developed to evaluate the treatment response. One of the mostly used is the Eckardt clinical score [148] which is the sum of symptom scores for dysphagia, regurgitation, chest pain, and weight loss (Table 21.1). Physiologic tests are the best predictors of long-term success of treatment [16]. A manometry can be used to assess the success if tolerated. A study noted that 66 % of patients with post-procedure LES pressure less than 15 mmHg were in symptomatic remission after 6 years [149]. Older anecdotal reports of return of peristalsis have recently been confirmed by HRM [150]. Timed barium esophagogram is a better predictor of success than is LES pressure [151]. More recently, EndoFLIP system (Crospon, Galway, Ireland) has been used to measure the distensibility of the EG junction with a balloon catheter passed across the LOS during an endoscopy. This parameter seems better than LES pressure for evaluating efficacy of treatment for achalasia [152].

Regardless of the elected therapy, patients must continue with regular follow-up. Periodic evaluation of symptoms, nutrition status, and growth is essential, especially in children and adolescents. Timed barium esophagram seems to be superior to manometry and easier to tolerate. Endoscopic surveillance is not indicated in children, but might be beneficial after a disease duration of more than 10–15 years [153] because of the rare, yet possible development of squamous cell carcinoma in the esophagus. It is thought to result from stasis and uncontrolled bacterial growth [154]. Based on a review of the literature, Dunaway has reported a mean prevalence of 3 % which represents of 50-fold increased risk over the general population [155]. Chronic gastroesophageal reflux resulting from the successful treatment of achalasia is also a risk factor for the development of adenocarcinoma [156, 157]. More recently, a prospective cohort study of 448 achalasia patients reported esophageal cancer in 3.3 % with an annual incidence of 0.34 and, despite structured endoscopic surveillance, most neoplastic lesions were detected at an advanced stage [158]. Up to now, no cases of esophageal carcinoma have been reported in patients who had achalasia diagnosed as children [44]. The overall life expectancy of patients with achalasia does not appear to be significantly decreased [159], but the quality of life in adulthood is decreased [4, 160]. Some have found that children with achalasia have a significantly lower quality of life compared to children with inflammatory bowel disease and healthy children [161]. Others did not find a difference [4].