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Am Fam Physician. 2020;102(5):291-296

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Esophageal motility disorders can cause chest pain, heartburn, or dysphagia. They are diagnosed based on specific patterns seen on esophageal manometry, ranging from the complete absence of contractility in patients with achalasia to unusually forceful or disordered contractions in those with hypercontractile motility disorders. Achalasia has objective diagnostic criteria, and effective treatments are available. Timely diagnosis results in better outcomes. Recent research suggests that hypercontractile motility disorders may be overdiagnosed, leading to unnecessary and irreversible interventions. Many symptoms ascribed to these disorders are actually due to unrecognized functional esophageal disorders. Hypercontractile motility disorders and functional esophageal disorders are generally self-limited, and there is considerable overlap among their clinical features. Endoscopy is warranted in all patients with dysphagia, but testing to evaluate for less common conditions should be deferred until common conditions have been optimally managed. Opioid-induced esophageal dysmotility is increasingly prevalent and can mimic symptoms of other motility disorders or even early achalasia. Dysphagia of liquids in a patient with normal esophagogastroduodenoscopy findings may suggest achalasia, but high-resolution esophageal manometry is required to confirm the diagnosis. Surgery and advanced endoscopic therapies have proven benefit in achalasia. However, invasive interventions are rarely indicated for hypercontractile motility disorders, which are typically benign and usually respond to lifestyle modifications, although pharmacotherapy may occasionally be needed. (Am Fam Physician. 2020;102(5):291–296. Copyright © 2020 American Academy of Family Physicians.)

Esophageal motility disorders are relatively uncommon conditions that are thought to cause chest pain or dysphagia in some patients. They are diagnosed not by specific symptoms or imaging studies, but on the basis of specific patterns seen on esophageal manometry, ranging from the complete absence of contractility in patients with achalasia to unusually forceful or disordered contractions in those with hypercontractile motility or “esophageal spasm” disorders.1

Achalasia has well-defined and objective diagnostic criteria, as well as effective evidence-based treatment options, but its diagnosis is often delayed. Conversely, recent research suggests that hypercontractile motility disorders may be overdiagnosed,2 leading to unnecessary and irreversible interventions. Although gastroesophageal reflux disease (GERD) and unrecognized functional esophageal disorders are more likely than achalasia or hypercontractile motility disorders to cause chronic symptoms,3,4 family physicians should also be familiar with the current understanding and terminology of these less common conditions to ensure timely and appropriate referral for testing and intervention.

Classification and Epidemiology

When normal swallowing (deglutition) is initiated, the upper esophageal sphincter relaxes, followed within one to two seconds by the lower esophageal sphincter, allowing a food bolus from the oropharynx to be propelled by peristalsis through the esophagus and into the stomach. In normal peristalsis, excitatory neurons cause contraction of one segment of smooth muscle as inhibitory neurons relax the segment below.

Achalasia is the esophageal motility disorder of greatest clinical significance. Hypercontractile motility disorders, although seemingly well-defined, may overlap with functional esophageal disorders to a greater degree than previously recognized. Several other conditions are classified among the esophageal motility disorders but are much less relevant (Table 1).1,47

DisorderLower esophageal sphincter tonePeristalsisComments
Achalasia
 Type I (classic)Fails to relax100% failed (no contractility)Responds to laparoscopic Heller myotomy, less so to pneumatic dilation
 Type II (with esophageal compression)Fails to relaxSome pressurization, but no normal peristalsisAll treatments are effective
 Type III (spastic)Fails to relaxNo normal peristalsis and spastic contractions distally in more than 20% of swallowsPoor response to treatment
Esophagogastric junction outflow obstructionFails to relaxSome preservedMay reflect a physical obstruction at the level of the lower esophageal sphincter rather than early achalasia
Major disorders of peristalsis*
 Absent contractilityNormalFailedRelatively rare; easily diagnosed but treatments are only minimally effective; common in patients with systemic sclerosis (scleroderma); included among the major motility disorders but typically manifests with reflux, not dysphagia or chest pain1
 Distal esophageal spasmNormalPremature distal contraction with poor peristalsisRelatively rare; diagnosis is difficult and treatments are only minimally effective
Hypercontractile (jackhammer) esophagusNormalAbnormally forceful contractionsRelatively rare; diagnosis is difficult and treatments are only minimally effective
Minor disorders of peristalsis
 Fragmented peristalsisNormal> 50% fragmented contractions
 Ineffective esophageal motilityNormal> 50% ineffective swallows

ACHALASIA

Achalasia is a progressive disorder that may not be recognized in its early stages, but that causes increasingly troublesome dysphagia and chest pain over time.8 It is present in less than 5% of patients referred to specialized centers.9 Achalasia can occur at any age but is more common in older adults. In this degenerative disorder, chronic esophageal smooth muscle denervation causes a deficiency of nitric oxide in tissues and a progressive loss of inhibitory neurons, ultimately resulting in impaired relaxation of the lower esophageal sphincter and absence of normal peristalsis. Although delayed diagnosis of achalasia does not increase the risk of esophageal cancer,10 it can cause significant esophageal dilatation over time, which may make surgical treatment less successful.11

HYPERCONTRACTILE MOTILITY DISORDERS

Distal esophageal spasm and hypercontractile (jackhammer) esophagus are the major hypercontractile motility disorders. These disorders are rare, even in referral populations, and occur primarily in people 60 years and older.5,6 They are also thought to result from the loss of inhibitory neuronal function. Distal esophageal spasm is characterized by premature contractions that are more forceful than normal. Jackhammer esophagus is characterized by appropriately timed but abnormally forceful hypercontractile peristalsis. Some patients with early achalasia have abnormal contractions similar to those occurring in distal esophageal spasm or jackhammer esophagus; however, these disorders themselves rarely progress to achalasia.12

Although the general term “esophageal spasm” is often used to refer to chest pain or dysphagia not explained by other causes, it should be used only in the context of hypercontractile motility disorders.

FUNCTIONAL ESOPHAGEAL DISORDERS

Like irritable bowel syndrome or functional dyspepsia, functional esophageal disorders involve abnorma lities of gut–brain interaction and central nervous system processing.4,13 Patients may report chest pain, heartburn, or dysphagia, and they may be hypervigilant about minor symptoms or hypersensitive to even physiologic amounts of acid. These disorders usually have a benign and self-limited course.

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