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{{SI}}
{{Alstrom syndrome}}
 
'''For patient information, click [[Alstrom syndrome (patient information)|here]]'''
 
{{CMG}}, {{AE}} {{AN}}; {{RT}}
{{CMG}}, {{AE}} {{AN}}; {{RT}}


{{SK}} Alstrom-Hallgren syndrome; ALMS; ALSS
{{SK}} Alstrom-Hallgren syndrome; ALMS; ALSS


==Overview==
==[[Alstrom syndrome overview|Overview]]==
Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders.
 
==[[Alstrom syndrome historical perspective|Historical Perspective]]==


==Epidemiology and Demographics==
==[[Alstrom syndrome pathophysiology|Pathophysiology]]==
It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and only 411 known cases in 42 countries. It was first described by [[Carl-Henry Alström]] in Sweden in 1959. Alstrom syndrome is sometimes confused with [[Bardet-Biedl syndrome]], which has similar symptoms. Bardet-Biedl syndrome tends to have later onset in its symptoms.


==Pathophysiology==
==[[Alstrom syndrome differential diagnosis|Differentiating Alstrom syndrome from other Diseases]]==
The Jackson Laboratory in Bar Harbor, Maine, USA with the [[University of Southampton]], UK isolated the single [[gene]] ([[ALMS1]]) responsible for Alstrőm Syndrome. The gene is [[recessive]]; it must be passed from both parents for the syndrome to manifest.
 
==[[Alstrom syndrome epidemiology and demographics|Epidemiology and Demographics]]==
 
==[[Alstrom syndrome screening|Screening]]==
 
==[[Alstrom syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]==


==Diagnosis==
==Diagnosis==
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.
[[Alstrom syndrome diagnostic criteria|Diagnostic Criteria]] | [[Alstrom syndrome history and symptoms|History and Symptoms ]] | [[ Alstrom syndrome physical examination|Physical Examination]] | [[Alstrom syndrome laboratory findings|Laboratory Findings]] | [[Alstrom syndrome electrocardiogram|Electrocardiogram]] | [[Alstrom syndrome chest x ray|Chest X Ray]] | [[Alstrom syndrome CT|CT]] | [[Alstrom syndrome MRI|MRI]] | [[Alstrom syndrome echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Alstrom syndrome other imaging findings|Other Imaging Findings]] | [[Alstrom syndrome other diagnostic studies|Other Diagnostic Studies]]


===Early Symptoms===
==Treatment==
*[[Heart failure]] (Dilated [[cardiomyopathy]]) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood.
[[Alstrom syndrome medical therapy|Medical Therapy]] | [[Alstrom syndrome surgery |Surgery]] | [[Alstrom syndrome primary prevention|Primary Prevention]] | [[Alstrom syndrome tertiary prevention|Tertiary Prevention]] | [[Alstrom syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Alstrom syndrome future or investigational therapies|Future or Investigational Therapies]]
*[[Light sensitivity]] and vision problems ([[Cone-rod dystrophy]]) in all cases, usually within 15 months of birth and progressively worsening until about 20 years of age
*[[Developmental delays]] in 50% of cases, [[learning disabilities]] in about 30% of cases
*[[Obesity]] in 100% of cases, apparent by 5 years of age, but often apparent in infancy (Alström infants usually have normal birth weights, and by adolescence, weights tend to be in the high-normal to normal range)


===Later Symptoms===
==Case Studies==
*Progressive [[hearing loss]]
[[Alstrom syndrome case study one|Case #1]]
*[[Kidney problems]]
*Liver problems
*[[Insulin resistance]]/[[Type 2 diabetes]]


==References==
==External Links==
{{Reflist|2}}
 
==External links==
* {{GeneTests|alstrom}}
* {{GeneTests|alstrom}}
*[http://www.jax.org/alstrom Alström Syndrome International home page]
*[http://www.jax.org/alstrom Alström Syndrome International home page]
*[http://alstrom.org.uk The UK Alström Syndrome Support Group Home page]
*[http://alstrom.org.uk The UK Alström Syndrome Support Group Home page]
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[[Category:Genetic Disease]]
[[Category:Genetic Disease]]
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Latest revision as of 19:53, 14 March 2016

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 On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

slides

Images

American Roentgen Ray Society Images of Alstrom syndrome

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

CDC on Alstrom syndrome

Alstrom syndrome in the news

Blogs on Alstrom syndrome

Directions to Hospitals Treating Alstrom syndrome

Risk calculators and risk factors for Alstrom syndrome

For patient information, click here

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]

Synonyms and keywords: Alstrom-Hallgren syndrome; ALMS; ALSS

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

External Links


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