Ataxia telangiectasia

نویسنده

  • Jean-Loup Huret
چکیده

Onset of the disease is often during the second year of life: there is progressive cerebellar ataxia (initially truncal, with further peripheral extend); ataxia is a constant feature in this disease; oculomotor apraxia, dysarthria, and dystonia; leading to muscular atrophia. Telangiectasia: facial region exposed to sunlight, and eyes (conjunctiva). Combined immunodeficiency (in 70 %): thymus hypoplasia, and IgG2 and 4, IgA, IgE deficiency. Other features: growth retardation; hypogonadism; diabetes mellitus. Mental retardation may occur.

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تاریخ انتشار 2011