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Achalasia

MedGen UID:
5023
Concept ID:
C0014848
Disease or Syndrome
Synonyms: Achalasia of esophagus; Esophageal achalasia; Primary achalasia
SNOMED CT: Cardiospasm (45564002); Achalasia of cardia (45564002); Lack of reflex relaxation of lower esophageal sphincter (45564002); Achalasia of esophagus (45564002)
 
HPO: HP:0002571
Monarch Initiative: MONDO:0008698

Definition

A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. [from HPO]

Conditions with this feature

Glucocorticoid deficiency with achalasia
MedGen UID:
82889
Concept ID:
C0271742
Disease or Syndrome
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood glucose (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.\n\nMany of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).\n\nPeople with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.\n\nPeople with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.\n\nAlacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
MedGen UID:
318752
Concept ID:
C1832950
Disease or Syndrome
Posterior column ataxia-retinitis pigmentosa syndrome
MedGen UID:
324636
Concept ID:
C1836916
Disease or Syndrome
Posterior column ataxia with retinitis pigmentosa (AXPC1) is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011).
Developmental malformations-deafness-dystonia syndrome
MedGen UID:
339494
Concept ID:
C1846331
Disease or Syndrome
Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.
Deafness-vitiligo-achalasia syndrome
MedGen UID:
347427
Concept ID:
C1857339
Disease or Syndrome
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.
Achalasia microcephaly syndrome
MedGen UID:
349753
Concept ID:
C1860212
Disease or Syndrome
An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood.
Achalasia, familial esophageal
MedGen UID:
395436
Concept ID:
C1860213
Disease or Syndrome
Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by Farrokhi and Vaezi, 2007 and Gockel et al., 2010).
Syndromic X-linked intellectual disability 17
MedGen UID:
477091
Concept ID:
C3275460
Mental or Behavioral Dysfunction
Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.
Moyamoya disease with early-onset achalasia
MedGen UID:
816733
Concept ID:
C3810403
Disease or Syndrome
Moyamoya disease-6 is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by Wallace et al., 2016; Herve et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
STAT3-related early-onset multisystem autoimmune disease
MedGen UID:
863232
Concept ID:
C4014795
Disease or Syndrome
Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune Disease See also ADMIO2 (617006), caused by mutation in the ZAP70 gene (176947) on chromosome 2q12, and ADMIO3 (620430), caused by mutation in the CBLB gene (604491) on chromosome 3q13.
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
MedGen UID:
863379
Concept ID:
C4014942
Disease or Syndrome
CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. Not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD) (summary by Vona et al., 2018). One family had a distinctive presentation with infantile-onset intractable seizures and cortical abnormalities reminiscent of Leigh syndrome (see 256000). The correlation between genotype and phenotype remains unclear, but since the IARS2 gene is involved in mitochondrial function, heterogeneous manifestations can be expected (Takezawa et al., 2018).
Glucocorticoid deficiency 2
MedGen UID:
891117
Concept ID:
C4049714
Disease or Syndrome
Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by Metherell et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).
MIRAGE syndrome
MedGen UID:
924576
Concept ID:
C4284088
Disease or Syndrome
MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.
Autosomal recessive limb-girdle muscular dystrophy type R18
MedGen UID:
1385598
Concept ID:
C4517996
Disease or Syndrome
Autosomal recessive limb-girdle muscular dystrophy-18 (LGMD18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).
Alacrima, achalasia, and intellectual disability syndrome
MedGen UID:
1640947
Concept ID:
C4706563
Disease or Syndrome
Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance.
Immunodeficiency 70
MedGen UID:
1740270
Concept ID:
C5436501
Disease or Syndrome
Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by Thaventhiran et al., 2020).
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
MedGen UID:
1794173
Concept ID:
C5561963
Disease or Syndrome
Congenital central hypoventilation syndrome-2 and autonomic dysfunction (CCHS2) is an autosomal recessive disorder characterized by shallow breathing and apneic spells apparent in the neonatal period. Affected infants require mechanical ventilation due to impaired ventilatory response to hypercapnia, as well as tube feeding due to poor swallowing, aspiration, and gastrointestinal dysmotility. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. Although mild global developmental delay with learning difficulties and seizures were present in the single family reported, it was unclear if these features were related to the hypoventilation phenotype (Spielmann et al., 2017). For a discussion of genetic heterogeneity of CCHS, see CCHS1 (209880).

Professional guidelines

PubMed

Yadlapati R, Gyawali CP, Pandolfino JE; CGIT GERD Consensus Conference Participants
Clin Gastroenterol Hepatol 2022 May;20(5):984-994.e1. Epub 2022 Feb 2 doi: 10.1016/j.cgh.2022.01.025. PMID: 35123084Free PMC Article
Wilkinson JM, Codipilly DC, Wilfahrt RP
Am Fam Physician 2021 Jan 15;103(2):97-106. PMID: 33448766
Vaezi MF, Pandolfino JE, Yadlapati RH, Greer KB, Kavitt RT
Am J Gastroenterol 2020 Sep;115(9):1393-1411. doi: 10.14309/ajg.0000000000000731. PMID: 32773454Free PMC Article

Recent clinical studies

Etiology

Rolland S, Paterson W, Bechara R
Neurogastroenterol Motil 2023 Jan;35(1):e14459. Epub 2022 Sep 25 doi: 10.1111/nmo.14459. PMID: 36153803
Haj Ali SN, Nguyen NQ, Abu Sneineh AT
Scand J Gastroenterol 2021 Jul;56(7):747-752. Epub 2021 May 27 doi: 10.1080/00365521.2021.1925957. PMID: 34043926
Zaninotto G, Leusink A, Markar SR
Curr Opin Gastroenterol 2019 Jul;35(4):356-362. doi: 10.1097/MOG.0000000000000544. PMID: 31033769
Boeckxstaens GE, Zaninotto G, Richter JE
Lancet 2014 Jan 4;383(9911):83-93. Epub 2013 Jul 17 doi: 10.1016/S0140-6736(13)60651-0. PMID: 23871090
Reynolds JC, Parkman HP
Gastroenterol Clin North Am 1989 Jun;18(2):223-55. PMID: 2668168

Diagnosis

Slim N, Williamson JM
Br J Hosp Med (Lond) 2023 Jan 2;84(1):1-9. Epub 2023 Jan 24 doi: 10.12968/hmed.2022.0437. PMID: 36708337
Nat Rev Dis Primers 2022 May 5;8(1):29. doi: 10.1038/s41572-022-00363-9. PMID: 35513436
Vaezi MF, Pandolfino JE, Yadlapati RH, Greer KB, Kavitt RT
Am J Gastroenterol 2020 Sep;115(9):1393-1411. doi: 10.14309/ajg.0000000000000731. PMID: 32773454Free PMC Article
Sanagapalli S, Sweis R
Curr Gastroenterol Rep 2017 Jun;19(6):27. doi: 10.1007/s11894-017-0568-7. PMID: 28429200
Abubakar U, Bashir MB, Kesieme EB
Niger J Clin Pract 2016 May-Jun;19(3):303-7. doi: 10.4103/1119-3077.179275. PMID: 27022788

Therapy

Slim N, Williamson JM
Br J Hosp Med (Lond) 2023 Jan 2;84(1):1-9. Epub 2023 Jan 24 doi: 10.12968/hmed.2022.0437. PMID: 36708337
Drexel S, Kishawi S, Marks J
Surg Clin North Am 2020 Dec;100(6):1183-1192. Epub 2020 Oct 10 doi: 10.1016/j.suc.2020.08.004. PMID: 33128887
Short MW, Burgers KG, Fry VT
Am Fam Physician 2017 Jan 1;95(1):22-28. PMID: 28075104
Pandolfino JE, Gawron AJ
JAMA 2015 May 12;313(18):1841-52. doi: 10.1001/jama.2015.2996. PMID: 25965233
Boeckxstaens GE, Zaninotto G, Richter JE
Lancet 2014 Jan 4;383(9911):83-93. Epub 2013 Jul 17 doi: 10.1016/S0140-6736(13)60651-0. PMID: 23871090

Prognosis

Ladrón Abia P, Ortiz V, García-Campos M, Saéz-González E, Mínguez Sabater A, Izquierdo R, Garrigues V
Gastroenterol Hepatol 2023 Apr;46(4):249-254. Epub 2022 May 20 doi: 10.1016/j.gastrohep.2022.05.004. PMID: 35605820
Dolina J, Kunovsky L, Kroupa R, Stary K, Jabandziev P, Nesporova T, Maca K, Andrasina T, Marek F, Kala Z, Vaculova J, Said D, Zapletalova M, Lochman J, Palova Noskova H, Slaby O, Izakovicova Holla L, Borilova Linhartova P
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2022 May;166(2):228-235. Epub 2021 Jul 2 doi: 10.5507/bp.2021.040. PMID: 34282806
Sato H, Terai S, Shimamura Y, Tanaka S, Shiwaku H, Minami H, Sato C, Ogawa R, Yokomichi H, Inoue H
J Gastroenterol 2021 Apr;56(4):360-370. Epub 2021 Feb 4 doi: 10.1007/s00535-021-01763-6. PMID: 33538893
van Hoeij FB, Ponds FA, Smout AJ, Bredenoord AJ
Neurogastroenterol Motil 2018 Feb;30(2) Epub 2017 Aug 24 doi: 10.1111/nmo.13195. PMID: 28836740
Tustumi F, Bernardo WM, da Rocha JRM, Szachnowicz S, Seguro FC, Bianchi ET, Sallum RAA, Cecconello I
Dis Esophagus 2017 Oct 1;30(10):1-8. doi: 10.1093/dote/dox072. PMID: 28859394

Clinical prediction guides

Slim N, Williamson JM
Br J Hosp Med (Lond) 2023 Jan 2;84(1):1-9. Epub 2023 Jan 24 doi: 10.12968/hmed.2022.0437. PMID: 36708337
Rieder E, Fernandez-Becker NQ, Sarosiek J, Guillaume A, Azagury DE, Clarke JO
Ann N Y Acad Sci 2020 Dec;1482(1):85-94. Epub 2020 Nov 2 doi: 10.1111/nyas.14510. PMID: 33140485
Laurino-Neto RM, Herbella F, Schlottmann F, Patti M
Arq Bras Cir Dig 2018;31(2):e1376. Epub 2018 Jul 2 doi: 10.1590/0102-672020180001e1376. PMID: 29972404Free PMC Article
Schlottmann F, Patti MG
Expert Rev Gastroenterol Hepatol 2018 Jul;12(7):711-721. Epub 2018 Jun 8 doi: 10.1080/17474124.2018.1481748. PMID: 29804476
van Lennep M, van Wijk MP, Omari TIM, Benninga MA, Singendonk MMJ
Expert Rev Gastroenterol Hepatol 2018 Apr;12(4):391-404. Epub 2018 Feb 26 doi: 10.1080/17474124.2018.1441023. PMID: 29439587

Recent systematic reviews

Shiu SI, Chang CH, Tu YK, Ko CW
Medicine (Baltimore) 2022 Jun 17;101(24):e29441. doi: 10.1097/MD.0000000000029441. PMID: 35713453Free PMC Article
Khashab MA, Vela MF, Thosani N, Agrawal D, Buxbaum JL, Abbas Fehmi SM, Fishman DS, Gurudu SR, Jamil LH, Jue TL, Kannadath BS, Law JK, Lee JK, Naveed M, Qumseya BJ, Sawhney MS, Yang J, Wani S
Gastrointest Endosc 2020 Feb;91(2):213-227.e6. Epub 2019 Dec 13 doi: 10.1016/j.gie.2019.04.231. PMID: 31839408
Oude Nijhuis RAB, Prins LI, Mostafavi N, van Etten-Jamaludin FS, Smout AJPM, Bredenoord AJ
Clin Gastroenterol Hepatol 2020 Jun;18(7):1442-1453. Epub 2019 Oct 14 doi: 10.1016/j.cgh.2019.10.008. PMID: 31622735
Aiolfi A, Asti E, Bonitta G, Bonavina L
World J Surg 2018 May;42(5):1469-1476. doi: 10.1007/s00268-017-4298-7. PMID: 29022068
Pandolfino JE, Gawron AJ
JAMA 2015 May 12;313(18):1841-52. doi: 10.1001/jama.2015.2996. PMID: 25965233

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