Living with Alstrom syndrome
A rare condition affecting many body systems, with gradual loss of vision and hearing, heart muscle disease, obesity, and type 2 diabetes.
Understanding Alstrom syndrome
It involves slowly worsening vision and hearing loss, heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes, and short height. It can also cause serious problems in the liver, kidneys, bladder, and lungs. Some people have thick, dark, velvety skin in body folds (acanthosis nigricans). Severity varies.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowly worsening vision loss
- Insulin resistance
- Chronic kidney disease
- Liver problems
- Retinal dystrophy (damage to the back of the eye)
- Cataract
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ALMS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Alstrom Syndrome International and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Alstrom Syndrome International, Children's Cardiomyopathy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Alstrom Syndrome International and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ALMS1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alms; alss; alstrom's syndrome; alström syndrome
Patient organizations
- Alstrom Syndrome InternationalAlstrom syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Alstrom syndrome.
Explore research for Alstrom syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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