ataxia, telangiectasia…

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antibodies, louis-bar syndrome, ataxia-telangiectasia, inherited disorder, many tissues, systems, multiple symptoms, telangiectasis, dilation of capillaries, ataxic, uncoordinated, gait, proneness to infection, defective humoral, cellular immunity, increased risk of malignancies, ataxia-telangiectasia is transmitted, an autosomal recessive trait, disease results from mutations, gene, atm, most obvious symptoms, multiple telangiectases, visible, in the white, the eye, skin areas the ear, nose, graying, the hair, irregular pigmentation, the skin in areas exposed to sunlight, decreased coordination of movements, ataxia, in late childhood, delayed walking, unsteady, jerky gait, ataxic gait, cerebellar ataxia, dilated blood vessels, in the whites, the eyes, dilated blood vessels in skin of nose, ears, flexion side, the elbow, knee, severe recurrent respiratory infections, decreasing mental development which slows, stops after age 10-12, movement disorder late, in the disease, repetitive abnormal, jerky eye movements, nystagmus, in the disease, coffee-with-milk colored spots, the skin, seizures, mask-like face, decreased-to-absent deep tendon reflexes, multiple skin changes, pigmentary, eczematoid, atrophic, growth failure, absence of pubertal development, hypoplastic tonsils, lymph nodes, spleen, tests, serum immunoglobulin levels, ige, iga, decreased iga, ige levels, decreased b, t cell screen, elevated alpha fetoprotein, afp, carcinoembryonic antigen, cea, increased tendency of chromosomes to break on exposure to radiation, genetic testing, mutations, in the atm gene, x-rays showing underdeveloped, small thymus in childhood, abnormal glucose tolerance test, no specific treatment, ataxia-telangiectasia, treatment is directed at specific associated problems, ataxia telangiectasia children's project, atcp, an early death is expected, commonly in early adolescence, severe recurrent pulmonary infections, progressive movement disorder, confinement to a wheelchair, malignant disease, lymphoma, result in death, diabetes, progressive scoliosis, kyphosis, signs, patients, very sensitive to radiation, should never be given radiation therapy, no unnecessary x-rays, genetic counseling is of benefit to prospective parents, a family history of ataxia-telangiectasia, parents of a child, slight increased risk of cancer, should have genetic counseling, intensive screening, cancer.