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Alström syndrome

What are the symptoms?

The first sign usually noticed in affected children is an involuntary rapid movement of the eye (nystagmus) and light sensitivity which begins in infancy and eventually leads to retinopathy ( a degeneration of the retina, the thin, light sensitive lining at the back of the eye) and blindness.

As infants and toddlers, affected children are generally overweight. Hearing impairment usually begins before the children are ten years old. Later, in young adulthood, children develop high levels of insulin in the blood, diabetes mellitus, and slowly progressive kidney problems.

Other findings observed in some Alström syndrome patients include a darkening of areas of the skin called acanthosis nigricans, scoliosis or curvature of the spine, short stature, an under active thyroid gland, elevation of enzymes in the liver, and dilated cardiomyopathy (a dysfunctioning of the heart muscle). Kidney failure can occur in the second to fourth decade of life. Urological problems can occur, rarely leading to the need for catheterisation or even urinary diversion.

View Background Background  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written October 1999 by Contact a Family based on information provided by the Jackson Laboratory, Maine, USA. Approved October 1999 by Dr R Paisey. Last updated January 2004 by Dr R Paisey, Consultant Physician, Torbay Hospital, Torquay, UK.

 

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