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Symptoms and Sign - Differential Diagnosis of Ataxia-Telangiectasia
• Friedreich’s ataxia
• Early-onset cerebellar ataxia with retained reflexes (EOCA)
• Ataxia associated with biochemical abnormalities: associated with ceroid lipofuscinosis, xeroderma pigmentosa, Cockayne’s syndrome, adrenoleukodystrophy, metachromatic leukodystrophy, mitochondrial disease, sialidosis, Niemann-Pick disease
• Acquired vitamin E deficiency
• Abetalipoproteinemia (Bassen-Kornzweig syndrome)
• Friedreich’s ataxia
• Early-onset cerebellar ataxia with retained reflexes (EOCA)
• Ataxia associated with biochemical abnormalities: associated with ceroid lipofuscinosis, xeroderma pigmentosa, Cockayne’s syndrome, adrenoleukodystrophy, metachromatic leukodystrophy, mitochondrial disease, sialidosis, Niemann-Pick disease
• Acquired vitamin E deficiency
• Abetalipoproteinemia (Bassen-Kornzweig syndrome)
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