Learn About Alstrom Syndrome

What is the definition of Alstrom Syndrome?

Alström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, deafness, diabetes, and obesity.

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What are the causes of Alstrom Syndrome?

Alström syndrome is inherited in an autosomal recessive manner. This means both your parents must pass on a copy of the defective gene (ALMS1) in order for you to have this disease.

It is unknown how the defective gene causes the disorder.

The condition is very rare.

What are the symptoms of Alstrom Syndrome?

Common symptoms of this condition are:

  • Blindness or severe vision impairment in infancy
  • Dark patches of skin (acanthosis nigricans)
  • Deafness
  • Impaired heart function (cardiomyopathy), which may lead to heart failure
  • Obesity
  • Progressive kidney failure
  • Slowed growth
  • Symptoms of childhood-onset or type 2 diabetes

Occasionally, the following can also occur:

  • Gastrointestinal reflux
  • Hypothyroidism
  • Liver dysfunction
  • Small penis
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What are the current treatments for Alstrom Syndrome?

There is no specific treatment for this syndrome. Treatment for symptoms may include:

  • Diabetes medicine
  • Hearing aids
  • Heart medicine
  • Thyroid hormone replacement
Who are the top Alstrom Syndrome Local Doctors?
Distinguished
Highly rated in
1
conditions

South Devon Healthcare NHS Foundation Trust

Barnstaple, ENG, GB 

Richard Paisey is in Barnstaple, United Kingdom. Paisey is rated as a Distinguished expert by MediFind in the treatment of Alstrom Syndrome. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Alstrom Syndrome, Diabetic Neuropathy, West Syndrome, and Type 2 Diabetes.

Distinguished
Highly rated in
11
conditions

University Of Padua

Padova, IT 35128

Pietro Maffei is in Padova, Italy. Maffei is rated as a Distinguished expert by MediFind in the treatment of Alstrom Syndrome. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Alstrom Syndrome, Hypertrichosis-Acromegaloid Facial Appearance Syndrome, Acromegaloid Facial Appearance Syndrome, and Acromegaly.

 
 
 
 
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Distinguished
Highly rated in
4
conditions

University Of Padua

Department Of Biology 
Padova, IT 

Gabriella Milan is in Padova, Italy. Milan is rated as a Distinguished expert by MediFind in the treatment of Alstrom Syndrome. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Alstrom Syndrome, Obesity, Multiple Symmetric Lipomatosis, and Bardet-Biedl Syndrome.

What are the support groups for Alstrom Syndrome?

Alström Syndrome International -- www.alstrom.org

What is the outlook (prognosis) for Alstrom Syndrome?

The following are likely to develop:

  • Deafness
  • Permanent blindness
  • Type 2 diabetes

Kidney and liver failure may get worse.

What are the possible complications of Alstrom Syndrome?

Possible complications are:

  • Complications from diabetes
  • Coronary artery disease (from diabetes and high cholesterol)
  • Fatigue and shortness of breath (if poor heart function is not treated)
When should I contact a medical professional for Alstrom Syndrome?

Call your health care provider if you or your child has symptoms of diabetes. Common symptoms of diabetes are increased thirst and urination. Seek medical attention right away if you think that your child cannot see or hear normally.

What are the latest Alstrom Syndrome Clinical Trials?
Coordination of Rare Diseases at Sanford
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COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique
What are the Latest Advances for Alstrom Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.

Who are the sources who wrote this article ?

Published Date : August 29, 2020
Published By : Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Farooqi IS, O'Rahilly S. Genetic syndromes associated with obesity. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 28.

Freund KB, Sarraf D, Mieler WF, Yannuzzzi LA. Hereditary chorioretinal dystrophies. In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. The Retinal Atlas. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 2.

Torres VE, Harris PC. Cystic diseases of the kidney. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 45.