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Alstrom Syndrome is a rare autosomal recessive disorder caused by a defect in the ALMS1 gene. This results in a malfunction of mobility of the cilia. Malfunction of the cilia causes retinal degeneration, hearing loss, heart, renal and liver problems, insulin resistance and can also affect the heart muscle.

There is no treatment for this condition and all therapy is supportive.

Life expectancy of patients with Alstrom Syndrome is unpredictable. However, as there is no curative treatment and with associated heart and kidney problems, it is a disease that can significantly shorten life expectancy.

Information about the service

UHB provide a world class and world-first one stop clinic for adults with Alstrom syndrome. The service at UHB is collaboration between ASUK and UHB and provides patients with the opportunity to participate in and contribute to their health care and related research. Every clinic includes a round table discussion with the clinical team, patients, family members and with representatives of ASUK.

The clinic addresses all the known complications and symptoms of Alstrom syndrome and provides both treatment and surveillance, where symptoms may not yet be present but may be reasonably expected. The clinic also offers a ‘One stop shop’, where an individual can see multiple consultants over 2 days. Typically, this is IMD, Cardiology, Respiratory, Ophthalmology, Audiology, Genetics, Diabetes, Physiotherapy, Psychology, Dietetics, Nurses and Pharmacy and they can also access other members of the Multidisciplinary Team as necessary. These clinics are an efficient and effective method for managing patients with inherited, progressive, rare disorders and for monitoring their progress over time. They are well attended (zero DNA rate) and highly rated and valued by patients and their carers. It is anticipated that this model of care will lead to a better understanding of Alstrom syndrome and will also change its natural history, leading to patients leading longer, healthier lives.

Last reviewed: 06 June 2023