tailieunhanh - The Gale Genetic Disorders of encyclopedia vol 1 - part 3

Triệu chứng khác, không phù hợp có thể bao gồm thần kinh, da (da), và một loạt các điều kiện khác. Triệu chứng thần kinh thần kinh của AT bao gồm: • Progressive thất điều tiểu não (mặc dù mất điều hòa có thể xuất hiện tĩnh trong độ tuổi từ hai năm) • tiểu não | Ataxia-telangiectasia five. Other less consistent symptoms may include neurological cutaneous skin and a variety of other conditions. Neurological Neurological symptoms of A-T include Progressive cerebellar ataxia although ataxia may appear static between the ages of two and five Cerebellar dysarthria slurred speech Difficulty swallowing causing choking and drooling Progressive apraxia lack of control of eye movements Muscle weakness and poor reflexes Initially normal intelligence sometimes with later regression to mildly retarded range Cutaneous Cutaneous symptoms include Progressive telangiectases of the eye and skin develop between two to ten years of age Atopic dermatitis itchy skin Café au lait spots pale brown areas of skin Cutaneous atrophy wasting away Hypo- and hyperpigmentation underpigmented and overpigmented areas of skin Loss of skin elasticity Nummular eczema coin-shaped inflammatory skin condition Other symptoms Other manifestations of A-T include Susceptibility to neoplasms tumors or growths Endocrine abnormalities Tendency to develop insulin-resistant diabetes in adolescence Recurrent sinopulmonary infection involving the sinuses and the airways of the lungs Characteristic loss of facial muscle tone Absence or dysplasia abnormal development of tissue of thymus gland Jerky involuntary movements Slowed growth Prematurely graying hair Diagnosis For a doctor who is familiar with A-T the diagnosis can usually be made on purely clinical grounds and often on inspection. But because most physicians have never seen a case of A-T misdiagnoses are likely to occur. For example physicians examining ataxic children frequently rule out A-T if telangiectases are not observed. However telangiectases often do not appear until the age of six and sometimes appear at a much older age. In addition a history of recurrent sinopulmonary infections might increase suspicion of A-T but about 30 of patients with A-T exhibit no immune system deficiencies. The most common early