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Ataxia
telangiectasia (Clinical
presentation (Deterioration of motor…
Ataxia
telangiectasia
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Pathophysiology
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Mechanism
Degeneration of muscle, causes initial delayed motor milestones then deterioration of motor skills
Immunodeficiency, particiarly IgA and E
Development of malignancy (lymphomas, leukaemias),
pulmonary disease (bronchiectasis) and sensitivity to
ionising radiation
Clinical
presentation
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Conjunctival telangiectasia
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Diagnosis
Examination
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CN exam
Nystagmus, delayed saccades
Conjunctival and dermatological telangiectasia
Limb examination
Dystonias, spasms, jerks, tremors
Dysdiadokinesis
Investigations
Bloods
FBC, CRP, U+E, LFT
a-fetoprotein (raised)
Genetics (FA, AT, CMT)
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History
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PC/HPC
Balance, coordination, ocular movement,
unusual movements, dysarthria
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SH
School/nursery, living arrangements,
social support
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Management
Conservative
Information, advice, support
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Complications
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Malignancy
Leukaemia, lymphoma