Alström syndrome

Alström syndrome is a rare multisystemic disorder characterised by:

• cone-rod dystrophy
• sensorineural hearing loss
• progressive renal and hepatic dysfunction
• insulin resistance and hyperinsulinaemia
• obesity
• dilated cardiomyopathy

Additional findings may include endocrine and urological disorders, hypertension, and chronic respiratory disease. Delays in early developmental milestones (most commonly in gross and fine motor skills) and learning disabilities have been described. Marked clinical variability is observed, even within the same family.

The prevalence in Europe and North America is estimated to be approximately 1:1,000,000.

Alström syndrome is caused by pathogenic variants in the ALMS1 gene. The ALMS1 gene encodes the Alström syndrome protein 1, which is involved in microtubule organisation and cilia formation and maintenance.

Alström syndrome is inherited in an autosomal recessive manner.

The rarity and complexity of Alström syndrome often lead to misdiagnosis or a very delayed diagnosis. Early diagnosis is important to slow progression and improve patients’ life expectancy and quality of life. 

Alström syndrome has similarities to .

There is currently no causal therapy to prevent the progressive organ dysfunction. Early detection is important to slow disease progression and improve quality of life. 

• Choudhury et al. 2021, Intractable Rare Dis Res 10:257
• Littleton et al. 2020, Mol Diagn Ther 24:653
• Tsang et al. 2018, Adv Exp Med Biol 1085:179
• Marshall et al. 2015, Hum Mutat 36:660
• Paisey et al. 2003, GeneReviews, University of Washington, Seattle [updated 2019 Jun 13]