epocrates

Zebra of the Week: Alstrom syndrome

April 28, 2025

Alstrom syndrome is a rare genetic disorder caused by mutations in the ALMS1 gene, inherited in an autosomal recessive manner. It affects multiple body systems, with symptoms typically appearing in childhood. Patients often experience progressive vision and hearing loss, childhood obesity, and cardiomyopathy. Over time, additional complications such as T2DM, liver dysfunction, and kidney disease may develop. Early diagnosis and multidisciplinary management are crucial for improving quality of life in patients with Alstrom syndrome. Regular monitoring and supportive treatments can help manage symptoms and prevent complications.

Source:

(Accessed 2025, April 25). NIH GARD. Alstrom syndrome. https://rarediseases.info.nih.gov/diseases/5787/alstrom-syndrome