December 2009: Alstrom syndrome misdiagnosed as Usher

Alstrom Syndrome UK would like you to be aware that Alstrom syndrome can be misdiagnosed as Usher syndrome.  They recently had 4 cases of people diagnosed with Ushers who turned out to have Alstrom Syndrome.  All four cases were people in their 40s and 50s.

Alström Syndrome is characterised principally by a number of key conditions:

Retinal degeneration
Sensorineural hearing loss
Obesity
Insulin resistance

Additional features can include:

Renal and hepatic dysfunction (affecting the kidneys and liver)
Type 2 diabetes mellitus
Hypertriglyceridaemia and tryglycerides (elevation of fatty substances found in the bloodstream)
Cardiomyopathy (poor cardiac function where the heart muscle is weakened and enlarged)

To learn more, visit Alstrom Syndrome UK here.

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