Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Achalasia in Down's syndrome

H G Preiksaitis1, L Miller, F G Pearson

  • 1Department of Medicine, University of Toronto, Ontario, Canada.

Journal of Clinical Gastroenterology
|September 1, 1994
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Prescribing drugs for the elderly: reaching therapeutic goals.

Canadian family physician Medecin de famille canadien·2010
Same author

Tachykinins contribute to nerve-mediated contractions in the human esophagus.

Gastroenterology·2001
Same author

Oropharyngeal dysphagia in esophageal cancer before and after transhiatal esophagectomy.

Dysphagia·2001
Same author

Pharmacological and molecular characterization of muscarinic receptor subtypes in human esophageal smooth muscle.

The Journal of pharmacology and experimental therapeutics·2000
Same author

Minimally invasive approaches to acquired shortening of the esophagus: laparoscopic Collis-Nissen gastroplasty.

Seminars in thoracic and cardiovascular surgery·2000
Same author

Human esophageal smooth muscle cells express muscarinic receptor subtypes M(1) through M(5).

American journal of physiology. Gastrointestinal and liver physiology·2000

Patients with Down syndrome have a higher risk of esophageal achalasia. Early diagnosis and treatment are crucial, as intellectual impairment can mask symptoms in these individuals.

Area of Science:

  • Gastroenterology
  • Genetics
  • Clinical Medicine

Background:

  • Gastrointestinal motility disorders, particularly esophageal motor disorders, are more prevalent in individuals with Down syndrome.
  • Achalasia, a rare esophageal motility disorder, is infrequently reported in patients with Down syndrome.

Observation:

  • A case series of three patients with Down syndrome diagnosed with achalasia over a 30-year period (1962-1992).
  • This represents a significant proportion of achalasia cases in patients with Down syndrome, with only one prior reported instance.

Findings:

  • Detailed clinical, radiological, and manometric data were collected for the three patients.
  • All three patients demonstrated positive responses to standard achalasia treatments.

Related Experiment Videos

Implications:

  • Achalasia may be underdiagnosed in the Down syndrome population due to communication challenges.
  • Increased awareness and diagnostic vigilance are necessary for timely management of achalasia in individuals with Down syndrome.