My Friends son has been stricken with juvenelle diabetes recently at age eleven. He is exihibiting some signs and symptoms associated with Ataxia Telangiectasia such as red spots on the eyes, an earlier speech impediment and thimus problems. My question is: What is the presentation of juvenile diabetes in the presence of Ataxia Telangiectasia and could you direct me to other web sites that might address this issue.
Ataxia-Telangiectasia is a rare hereditary disorder, which is inherited in an autosomal recessive pattern (ask a local high-school biology student to explain what "autosomal recessive" means!). A-T is characterized by progressive trouble with movements (called ataxia), and eye and skin changes (called telangiectasia). The patients also have recurrent infections of the respiratory tract and sinuses.
About 60% of patients with A-T also have an unusual form of diabetes, with high blood sugar and high insulin levels, and a decreased sensitivity to insulin given by injection, so that sometimes high doses of insulin are necessary to control the high blood sugar level.
The glucose intolerance is usually mild, and rarely requires insulin therapy. And the tendency toward insulin-resistance seems to come and go.
All in all, quite different from the usual version of diabetes in kids (Type 1 diabetes).
PS: We would suggest that you look at a web search engine using the 3 keywords ataxia telangiectasia diabetes, and see what else you can find on the Internet. For example, we found Ataxia (Ataxia-telangiectasia) from the Penn State Children's Hospital
16 April 1996 Update
From a reader of Children with Diabetes:My son has Ataxia Telangiectasia. I would like to refer them to the clinical center for A-T at John Hopkins and the The A-T Children's Project support group.
Original posting 21 Mar 96
Updated January 16, 2006
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