Alstrom syndrome overview

Alstrom syndrome Microchapters
Home
Patient Information
Overview
Historical Perspective
Pathophysiology
Differentiating Alstrom syndrome from other Diseases
Epidemiology and Demographics
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
Chest X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Tertiary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Alstrom syndrome overview On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
slides
Images
American Roentgen Ray Society Images of Alstrom syndrome overview All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Alstrom syndrome overview
CDC on Alstrom syndrome overview
Alstrom syndrome overview in the news
Blogs on Alstrom syndrome overview
Directions to Hospitals Treating Alstrom syndrome
Risk calculators and risk factors for Alstrom syndrome overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]

Overview

Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1 which is located on the chromosome 2. It is among the rarest genetic disorders.

Historical Perspective

Alström syndrome was first described by Carl-Henry Alström in Sweden in 1959.

Epidemiology and Demographics

It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and only 800 known cases in 54 countries.

Diagnosis

Diagnostic Criteria

It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis.

Imaging

Other Imaging Findings

Electroretinogram is used for ophthalmologic evaluation. Screening esophagogastroduodenoscopy can be used to diagnose varices. Similarly upper GI endoscopy can aid in the diagnosis of gastroesophageal reflux.

Other Diagnostic Studies

The diagnosis of Alström syndrome relies primarily on clinical findings and/or family history. In some instances the diagnosis can be confirmed by molecular genetic testing. Sequence analysis of the coding region should be performed: tiered testing with sequencing of select exons first, followed by analysis of the entire gene. The frequency of deletions is unknown but deletion/duplication analysis may be clinically indicated in some instances.

References

Template:WikiDoc Sources CME Category::Cardiology