Ataxia

Ataxia is shakiness, stiffness and clumsiness in moving, often with difficulty in controlling posture and balance, and slurring of speech. There may be associated repetitive twitching of the eyes, called Nystagmus. (It is similar, in the adult, to being drunk).

There are a number of causes. Those which come on suddenly, producing a ‘stumbly child’ are usually due to exposure to a toxic agent (which might, in fact, be alcohol) or a viral infection - it’s sometimes seen as a complication of chicken pox. Some, such as Freidreich’s Ataxia, defective Vitamin E metabolism or degeneration of the nerve tracts between the spine and the lower part of the brain (the cerebellum - so called spino-cerebellar degeneration) are hereditary and present in childhood or adolescence. Ataxia Telangectasia is a hereditary condition where thee is a defect in a gene that helps us repair damaged DNA in cells.

Besides progressive ataxia there are blood vessel abnormalities producing telangiectases - red spots composed of distended capillaries - on the conjunctiva (the lining of the eyes), the neck and the shoulders. There is an increased susceptibility to infection.
 
 

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