Ataxia-telangectasia
– autosomal recessive multisystem disorder
– caused by mutation in the ATM gene involved in DNA repair
– earliest manifestation is cerebellar ataxia (often within first year of life)
– Dysarthria and a mixed sensorimotor polyneuropathy are later manifestations of the disease
– other sx: recurrent sinupulmonary infection, malignancy, and dermal/ocular telangiectasias
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