Alström syndrome is a very rare, hereditary genetic disorder first described by C.H. Alström in Sweden in 1959. There are over two hundred cases known worldwide.

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.

Inheritance patterns
Autosomal recessive

Prenatal diagnosis
For current information about prenatal diagnosis, contact Alström Syndrome UK.

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.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

ALSTRÖM SYNDROME UK

Alström Syndrome UK
49 Southfield Avenue
Paignton
TQ3 1LH
Tel/Fax: 01803 524238 Office
e-mail: alstrom@syndromeuk.freeserve.co.uk
Web: http://www.alstrom.org.uk

The group is a National Registered Charity No. 1071196, established in 1998. It offers support to families, carers and professional workers and raises awareness of Alström syndrome in the public and medical profession. The Group fundraises for medical research and to meet individual needs, and co-ordinates an annual screening clinic alonside its annual conference. It publishes a newsletter and is in touch with 20 families. The National Specialist Commissioning Advisory Group (NSCAG) funds specialised, multi-disciplinary Alström clinics - for details contact the group as above or e-mail: kay.parkinson@alstrom.org.uk .

Group details last updated January 2007.