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What is predecay ataxia?


I am told this is a genetic disease. Can someone provide more information?

I think you mean pediatric ataxia-telangiectasia. It's also called Louis-Bar's syndrome and is a progressive, denegrative brain disease that affect many body systems. The symptoms appear during the second to fourth year of life. Some of these are a lack of muscle control that results in slurred speech and difficulty walking, poor hand coordination, poor eye control, poor immunity with a tendency for severe respiratory infections such as pneumonia, mental retardation in 50% of those affected and a tendency for malignancies (cancers). If the child survives to reach the age of 10, she/he is most likely wheelchair-bound. It is incurable.

It is genetic and is transmited as an autosomal recessive trait. If one child has it, there's a 25% chance the next child will also have it. Gene analysis can identify the gene associated with it.

Ataxia (Pediatric) Overview
Ataxia describes a lack of coordination while performing voluntary movements. It may appear as clumsiness, inaccuracy, or instability. Movements are not smooth and may appear disjointed or jerky.

Ataxia may affect any part of the body. When it affects the arms and hands, it may cause tremor due to over-correction of inaccurate movements, past-pointing when an attempted reach overshoots the target, and poor performance of regular, repeated movements, such as hand clapping. When ataxia affects mechanisms of walking, there will be instability with a tendency to fall. As a result, the child usually adopts a wide-based gait, with the feet spread further apart than the hips. This is done in an attempt to compensate for the instability. The gait may appear "drunken." Balance may also be affected; the child may fall spontaneously or be unable to compensate for variations in the ground or a mild push from the side. When ataxia affects speech, it leads to "scanning" speech. In this form of speech, the voice is relatively monotone, often with a breathy sound accompanied by unusual accelerations or pauses between syllables. When ataxia affects the eyes, rapid shifts of gaze to look at a particular object often miss. On careful examination, the eyes may be observed to overshoot or undershoot their mark, with "catch-up" movements.

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