Alström syndrome

Alström syndrome (also known as Alstrom syndrome or Alström-Hallgren syndrome) is an extremely rare, autosomal recessive, multisystem disorder caused by mutations in the ALMS1 gene located on chromosome 2p13. It is classified as a ciliopathy — a disorder resulting from dysfunction of primary cilia, which are cellular structures involved in signaling across many organ systems. The condition typically presents in infancy with cone-rod dystrophy leading to progressive visual impairment and eventual blindness, often accompanied by nystagmus and photophobia. Sensorineural hearing loss develops in childhood and is progressive. Dilated cardiomyopathy can occur in infancy or adolescence and may be life-threatening. Metabolic features are prominent and include early-onset obesity, insulin resistance, type 2 diabetes mellitus, and hypertriglyceridemia (collectively resembling metabolic syndrome). Progressive renal dysfunction and hepatic fibrosis are common complications that develop over time. Additional features may include short stature, hypothyroidism, male hypogonadism, and pulmonary fibrosis. There is currently no cure for Alström syndrome, and management is supportive and multidisciplinary. Treatment focuses on addressing individual organ involvement: hearing aids or cochlear implants for hearing loss, cardiac medications or transplantation for cardiomyopathy, insulin-sensitizing agents for diabetes, dietary management for obesity, and renal replacement therapy if kidney failure develops. Early diagnosis and coordinated care involving cardiology, endocrinology, ophthalmology, audiology, nephrology, and hepatology are essential to optimize outcomes and quality of life. Genetic counseling is recommended for affected families. Fewer than 1,000 cases have been identified worldwide.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Alström syndrome