Alström syndrome: the journey to diagnosis

Alström syndrome: the journey to diagnosis

Abstract Background Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it i...

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Bibliographic Details
Main Authors: Akshat Sinha, Kerry Leeson-Beevers, Catherine Lewis, Elizabeth Loughery, Tarekegn Geberhiwot
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Alström syndrome
Cardiomyopathy
Retinopathy
Obesity
Rare disease
Qualitative
Online Access:https://doi.org/10.1186/s13023-024-03509-y
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