D2I2.
genetic

Alström syndrome

Alström (AS) is a very rare multi-system, disorder characterized by type 2 , cone-rod resulting in blindness, sensorineural hearing loss and . disorders typically also occur, such as hypergonadotrophic hypogonadism and , as well as acanthosis nigricans resulting from hyperinsulinemia.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·cone-rod , photophobia, nystagmus, hearing impairment, , childhood , extreme resistance, accelerated non-alcoholic fatty liver disease, renal , disease, and urologic disorders

Causes — why it happens

  • · in the ALMS1 gene on 2p13

How it's found

  • ·Based on symptoms and testing

Treatment

  • ·Management of symptoms

Outlook

  • ·Life expectancy is typically between 40-50 years
Plain-language summary adapted from Wikipedia. Not medical advice.