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Achalasia

MedGen UID:
5023
Concept ID:
C0014848
Disease or Syndrome
Synonyms: Achalasia of the esophagus
SNOMED CT: Cardiospasm (45564002); Achalasia of cardia (45564002); Lack of reflex relaxation of lower esophageal sphincter (45564002); Achalasia of esophagus (45564002)
 
HPO: HP:0002571

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]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAchalasia

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 sugar (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.Many 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).People 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.People 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.Alacrima 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.
Posterior column ataxia with retinitis pigmentosa
MedGen UID:
324636
Concept ID:
C1836916
Disease or Syndrome
Posterior column ataxia with retinitis pigmentosa 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).
Juvenile-onset dystonia
MedGen UID:
339494
Concept ID:
C1846331
Disease or Syndrome
Motor neuropathy peripheral with dysautonomia
MedGen UID:
381527
Concept ID:
C1854961
Disease or Syndrome
Deafness, congenital, with vitiligo and achalasia
MedGen UID:
347427
Concept ID:
C1857339
Disease or Syndrome
Achalasia microcephaly syndrome
MedGen UID:
349753
Concept ID:
C1860212
Disease or Syndrome
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 (Farrokhi and Vaezi, 2007; summary by Gockel et al., 2010).
Mental retardation, X-linked, syndromic 17
MedGen UID:
477091
Concept ID:
C3275460
Disease or Syndrome
Alacrima, achalasia, and mental retardation syndrome
MedGen UID:
816068
Concept ID:
C3809738
Disease or Syndrome
Alacrima, achalasia, and mental retardation 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.
Moyamoya disease 6 with achalasia
MedGen UID:
816733
Concept ID:
C3810403
Disease or Syndrome
Moyamoya disease-6 with achalasia is an autosomal recessive disorder characterized by onset of severe achalasia in infancy or early childhood. Most patients develop ischemic strokes and show brain imaging consistent with moyamoya disease or intracranial angiopathy. More variable vascular features include hypertension and Raynaud phenomenon (summary by Herve et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).

Recent clinical studies

Etiology

Petrosyan M, Khalafallah AM, Guzzetta PC, Sandler AD, Darbari A, Kane TD
J Pediatr Surg 2016 Oct;51(10):1619-22. Epub 2016 May 31 doi: 10.1016/j.jpedsurg.2016.05.015. PMID: 27292598
Sanaka MR, Hayat U, Thota PN, Jegadeesan R, Ray M, Gabbard SL, Wadhwa N, Lopez R, Baker ME, Murthy S, Raja S
World J Gastroenterol 2016 May 28;22(20):4918-25. doi: 10.3748/wjg.v22.i20.4918. PMID: 27239118Free PMC Article
Coleman HG, Gray RT, Lau KW, McCaughey C, Coyle PV, Murray LJ, Johnston BT
World J Gastroenterol 2016 Apr 21;22(15):4002-8. doi: 10.3748/wjg.v22.i15.4002. PMID: 27099443Free PMC Article
Ou YH, Nie XM, Li LF, Wei ZJ, Jiang B
J Dig Dis 2016 Apr;17(4):222-35. doi: 10.1111/1751-2980.12327. PMID: 26860986
Borhan-Manesh F, Kaviani MJ, Taghavi AR
Dis Esophagus 2016 Apr;29(3):262-6. Epub 2015 Mar 13 doi: 10.1111/dote.12314. PMID: 25765473

Diagnosis

Sanaka MR, Hayat U, Thota PN, Jegadeesan R, Ray M, Gabbard SL, Wadhwa N, Lopez R, Baker ME, Murthy S, Raja S
World J Gastroenterol 2016 May 28;22(20):4918-25. doi: 10.3748/wjg.v22.i20.4918. PMID: 27239118Free PMC Article
Coleman HG, Gray RT, Lau KW, McCaughey C, Coyle PV, Murray LJ, Johnston BT
World J Gastroenterol 2016 Apr 21;22(15):4002-8. doi: 10.3748/wjg.v22.i15.4002. PMID: 27099443Free PMC Article
Hamer PW, Holloway RH, Crosthwaite G, Devitt PG, Thompson SK
ANZ J Surg 2016 Jul;86(7-8):555-9. Epub 2016 Mar 18 doi: 10.1111/ans.13497. PMID: 26992650
Gyawali CP
Neurogastroenterol Motil 2016 Jan;28(1):4-11. doi: 10.1111/nmo.12750. PMID: 26690870
Borhan-Manesh F, Kaviani MJ, Taghavi AR
Dis Esophagus 2016 Apr;29(3):262-6. Epub 2015 Mar 13 doi: 10.1111/dote.12314. PMID: 25765473

Therapy

Sanaka MR, Hayat U, Thota PN, Jegadeesan R, Ray M, Gabbard SL, Wadhwa N, Lopez R, Baker ME, Murthy S, Raja S
World J Gastroenterol 2016 May 28;22(20):4918-25. doi: 10.3748/wjg.v22.i20.4918. PMID: 27239118Free PMC Article
Gyawali CP
Neurogastroenterol Motil 2016 Jan;28(1):4-11. doi: 10.1111/nmo.12750. PMID: 26690870
Ravi K, Murray JA, Geno DM, Katzka DA
Dis Esophagus 2016 Jan;29(1):15-21. Epub 2015 Jan 21 doi: 10.1111/dote.12291. PMID: 25604060
Talukdar R, Inoue H, Nageshwar Reddy D
Surg Endosc 2015 Nov;29(11):3030-46. Epub 2014 Dec 25 doi: 10.1007/s00464-014-4040-6. PMID: 25539695
Wang J, Tan N, Xiao Y, Chen J, Chen B, Ma Z, Zhang D, Chen M, Cui Y
Dis Esophagus 2015 Nov-Dec;28(8):720-7. Epub 2014 Sep 12 doi: 10.1111/dote.12280. PMID: 25214469

Prognosis

Petrosyan M, Khalafallah AM, Guzzetta PC, Sandler AD, Darbari A, Kane TD
J Pediatr Surg 2016 Oct;51(10):1619-22. Epub 2016 May 31 doi: 10.1016/j.jpedsurg.2016.05.015. PMID: 27292598
Hamer PW, Holloway RH, Crosthwaite G, Devitt PG, Thompson SK
ANZ J Surg 2016 Jul;86(7-8):555-9. Epub 2016 Mar 18 doi: 10.1111/ans.13497. PMID: 26992650
Ou YH, Nie XM, Li LF, Wei ZJ, Jiang B
J Dig Dis 2016 Apr;17(4):222-35. doi: 10.1111/1751-2980.12327. PMID: 26860986
Ju H, Ma Y, Liang K, Zhang C, Tian Z
Surg Endosc 2016 Mar;30(3):1094-9. Epub 2015 Jun 23 doi: 10.1007/s00464-015-4304-9. PMID: 26099621
Patel A, Patel A, Mirza FA, Soudagar S, Sayuk GS, Gyawali CP
J Gastroenterol 2016 Feb;51(2):112-8. Epub 2015 May 23 doi: 10.1007/s00535-015-1088-6. PMID: 26002107Free PMC Article

Clinical prediction guides

Petrosyan M, Khalafallah AM, Guzzetta PC, Sandler AD, Darbari A, Kane TD
J Pediatr Surg 2016 Oct;51(10):1619-22. Epub 2016 May 31 doi: 10.1016/j.jpedsurg.2016.05.015. PMID: 27292598
Coleman HG, Gray RT, Lau KW, McCaughey C, Coyle PV, Murray LJ, Johnston BT
World J Gastroenterol 2016 Apr 21;22(15):4002-8. doi: 10.3748/wjg.v22.i15.4002. PMID: 27099443Free PMC Article
Hamer PW, Holloway RH, Crosthwaite G, Devitt PG, Thompson SK
ANZ J Surg 2016 Jul;86(7-8):555-9. Epub 2016 Mar 18 doi: 10.1111/ans.13497. PMID: 26992650
Ou YH, Nie XM, Li LF, Wei ZJ, Jiang B
J Dig Dis 2016 Apr;17(4):222-35. doi: 10.1111/1751-2980.12327. PMID: 26860986
Patel A, Patel A, Mirza FA, Soudagar S, Sayuk GS, Gyawali CP
J Gastroenterol 2016 Feb;51(2):112-8. Epub 2015 May 23 doi: 10.1007/s00535-015-1088-6. PMID: 26002107Free PMC Article

Recent systematic reviews

Petrosyan M, Khalafallah AM, Guzzetta PC, Sandler AD, Darbari A, Kane TD
J Pediatr Surg 2016 Oct;51(10):1619-22. Epub 2016 May 31 doi: 10.1016/j.jpedsurg.2016.05.015. PMID: 27292598
Ou YH, Nie XM, Li LF, Wei ZJ, Jiang B
J Dig Dis 2016 Apr;17(4):222-35. doi: 10.1111/1751-2980.12327. PMID: 26860986
Patel K, Abbassi-Ghadi N, Markar S, Kumar S, Jethwa P, Zaninotto G
Dis Esophagus 2016 Oct;29(7):807-819. Epub 2015 Jul 14 doi: 10.1111/dote.12387. PMID: 26175119
Pandolfino JE, Gawron AJ
JAMA 2015 May 12;313(18):1841-52. doi: 10.1001/jama.2015.2996. PMID: 25965233
Talukdar R, Inoue H, Nageshwar Reddy D
Surg Endosc 2015 Nov;29(11):3030-46. Epub 2014 Dec 25 doi: 10.1007/s00464-014-4040-6. PMID: 25539695

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