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About Alström syndrome
Alström syndrome is an ultra-rare genetic condition caused by mutations in the ALMS1 gene. The condition affects nearly all major organ systems, including the heart, eyes, ears and metabolic function.
It is estimated to affect approximately one in one million births worldwide.
Signs and symptoms
Children with Alström syndrome may experience a wide range of symptoms and complications, including:
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Cardiomyopathy and heart failure
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Progressive vision loss including early photophobia and nystagmus
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Hearing loss
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Obesity and insulin resistance
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Type 2 diabetes
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Liver and kidney disease
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Hormonal and endocrine complications
Symptoms and severity can vary significantly between individuals.
Diagnosis
Due to the rarity and complexity of the condition, many families experience long and difficult journeys to diagnosis.
Receiving a diagnosis can feel frightening and overwhelming. Families are often required to navigate complex care pathways while searching for trusted information, connection and hope for the future.
Early recognition is important because timely intervention, monitoring and coordinated care may improve long-term outcomes.
Research and future therapies
There is currently no cure for Alström syndrome. However, advances in rare disease research, genetics and emerging therapies are creating new possibilities for diagnosis, treatment and future clinical pathways.
Around the world, researchers, clinicians and rare disease organisations are working to improve understanding of the condition and explore future treatment opportunities.
Alström Syndrome Australia is committed to helping ensure Australian families are connected to this global progress.
International resources
We are grateful to international organisations including Alström Syndrome UK, Alström Syndrome International and Alström Syndrome Global for their leadership, collaboration and ongoing support for families worldwide.
This website will continue to provide links to trusted clinical guidelines, medical handbooks, wellbeing resources, webinars and transition tools as the organisation grows.
Be part of the journey
Alström Syndrome Australia is still in its early stages, and there is much to build.
Join our mailing list to receive occasional updates on research, advocacy, events and the work being done to improve the future for people living with Alström syndrome.
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