Alstrom syndrome
Alström syndromeAlström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, deafness, diabetes, and obesity.
Blindness
Blindness is a lack of vision. It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Partial blindness mean...
Read Article Now Book Mark ArticleDeafness
Hearing loss is being partly or totally unable to hear sound in one or both ears.
Read Article Now Book Mark ArticleDiabetes
Diabetes is a long-term (chronic) disease in which the body cannot regulate the amount of sugar in the blood.
Read Article Now Book Mark ArticleObesity
Overweight and obesity mean having a weight than is higher than what is healthy for a given height. A person may be overweight from extra muscle, bo...
Read Article Now Book Mark ArticleCauses
Alström syndrome is inherited in an autosomal recessive manner. This means both of your parents must pass on a copy of the defective gene (ALMS1) in order for you to have this disease.
Autosomal recessive
Autosomal recessive is one of several ways that a genetic trait, disorder, or disease can be passed down through families. An autosomal recessive dis...
Read Article Now Book Mark ArticleIt is unknown how the defective gene causes the disorder.
The condition is very rare.
Symptoms
Common symptoms of this condition are:
- Blindness or severe vision impairment in infancy
Vision impairment
There are many types of eye problems and vision disturbances, such as: Halos Blurred vision (the loss of sharpness of vision and the inability to see...
Read Article Now Book Mark Article - Dark patches of skin (acanthosis nigricans)
- Deafness
- Impaired heart function (cardiomyopathy), which may lead to heart failure
Cardiomyopathy
Cardiomyopathy is disease in which the heart muscle becomes weakened, stretched, or has another structural problem. It often contributes to the hear...
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- Progressive kidney failure
- Slowed growth
- Symptoms of childhood-onset or type 2 diabetes
Occasionally, the following can also occur:
- Gastrointestinal reflux
-
Hypothyroidism
Hypothyroidism
Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone. This condition is often called underactive thyroid....
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- Small penis
Exams and Tests
An eye doctor (ophthalmologist) will examine the eyes. The person may have reduced vision.
Tests may be done to check:
- Blood sugar levels (to diagnose high blood sugar or hyperglycemia)
Hyperglycemia
A blood sugar test measures the amount of a sugar called glucose in a sample of your blood. Glucose is a major source of energy for most cells of the...
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- Heart function
- Thyroid function
-
Triglyceride levels
Triglyceride
The triglyceride level is a blood test to measure the amount of triglycerides in your blood. Triglycerides are a type of fat. Your body makes some t...
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Treatment
There is no specific treatment for this syndrome. Treatment for symptoms may include:
- Diabetes medicine
- Hearing aids
- Heart medicine
- Thyroid hormone replacement
Support Groups
Alström Syndrome International -- www.alstrom.org
Outlook (Prognosis)
The following are likely to develop:
- Deafness
- Permanent blindness
- Type 2 diabetes
Kidney and liver failure may get worse.
Possible Complications
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 to Contact a Medical Professional
Contact 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.
References
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.
Review Date: 7/28/2022
Reviewed By: Charles I. Schwartz MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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