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Alström Syndrome
Alström Syndrome is a rare genetic condition that affects many parts of the body. It usually becomes noticeable in childhood and can affect the eyes, ears, heart, kidneys, liver, and metabolism.
People with living with Alström Syndrome may experience:
- Vision problems that can progress to blindness
- Hearing loss
- Heart problems, such as heart failure or cardiomyopathy
- Obesity and type 2 diabetes
- Liver and kidney issues
Alström Syndrome is caused by changes in a specific gene and is inherited from both parents.
Signs & symptoms
The symptoms of Alström Syndrome vary but often include:
- Progressive vision loss starting in early childhood
- Hearing difficulties that may develop during childhood
- Heart problems such as heart failure or irregular heartbeats
- Obesity and related metabolic issues, including type 2 diabetes
- Liver or kidney problems
- Delayed development or difficulty with coordination in some children
Symptoms usually appear gradually and affect multiple body systems over time.
Treatment
Treatment focuses on managing symptoms and maintaining health:
- Vision and hearing support - regular check-ups, glasses, hearing aids, or other assistive devices
- Heart care- monitoring and treatment for heart problems
- Diabetes management - healthy eating, exercise, and medications as needed
- Kidney and liver monitoring - regular check-ups to detect problems early
- Supportive care - physical therapy, occupational therapy, and specialist care to manage developmental or coordination difficulties
When to call 999
Contact your GP or health care team if you notice:
- Sudden changes in vision or hearing
- Symptoms of heart problems such as shortness of breath, chest pain, or fatigue
- Blood sugar levels that are difficult to control
- Swelling, jaundice, or other signs of liver or kidney issues
- Difficulty with daily activities due to coordination or developmental issues
Seek urgent medical attention if you experience:
- Severe shortness of breath, chest pain, or signs of heart failure
- Severe dehydration or very high blood sugar Sudden loss of vision or hearing
