Ataxia telangiectasia history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
History and Symptoms
AT is characterized by:
- Early-onset progressive cerebellar ataxia
- Oculo-cutaneous telangiectasia (dilated blood vessels in the eyes and skin)
- Immunodeficiency mostly through lowering of IgA, IgG and IgE levels.
- Chromosomal instability
- Hyper sensitivity to ionising radiation
- Increased incidence of malignancies (primarily lymphoid).
- Raised alpha-fetoprotein levels
Telangiectasias are small, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT. The 'ataxia' part of the name refers to the difficulty patients with AT have walking. At an early age, the child's walking becomes wobbly; at teens, handicapped-bound; and at the early 20s, the condition becomes fatal.
In some cases the victim gets enlarged bowels, and they don't feel like eating. AT is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, progressive cerebellar dysfunction, and recurrent sinopulmonary infections secondary to progressive immunological and neurological dysfunction.[1] AT patients are significantly predisposed to cancer, particularly lymphomas and leukemia. Other manifestations of the disease include sensitivity to ionizing radiation,[2] premature aging, and hypogonadism. AT has been a major interest of scientists since the 1960's because it may yield an insight into numerous other major health problems, such as cancer, neurological disease, immunodeficiency, and aging (Lederman, 2000).
References
- ↑ Boder E, Sedgwick RP (1958). "Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection". Pediatrics. 21 (4): 526–54. PMID 13542097.
- ↑ Taylor AM, Harnden DG, Arlett CF; et al. (1975). "Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity". Nature. 258 (5534): 427–9. doi:10.1038/258427a0. PMID 1196376.