eMedicine Specialties > Ophthalmology > Phakomatoses
Ataxia-telangiectasia: Treatment & Medication
Updated: Nov 18, 2008
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
Treatment
Medical Care
- Evaluation usually can be conducted on an outpatient basis.
- Management of recurrent sinopulmonary infections may require hospital stay and intravenous antibiotics.
Consultations
- Neurology
- Genetics
- Otorhinolaryngology
Activity
- Activity may be limited by progression of truncal ataxia.
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| Overview: Ataxia-telangiectasia |
| Differential Diagnoses & Workup: Ataxia-telangiectasia |
Treatment & Medication: Ataxia-telangiectasia |
| Follow-up: Ataxia-telangiectasia |
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References
Boder E, Sedgwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. Apr 1958;21(4):526-54. [Medline].
Albert DM, et al. Phakomatoses-Ataxia-Telangiectasia (Louis-Bar Syndrome). In: Principles and Practice of Ophthalmology Clinical Practice. Philadelphia: WB Saunders; 1994.
Farr AK, Shalev B, Crawford TO, et al. Ocular manifestations of ataxia-telangiectasia. Am J Ophthalmol. Dec 2002;134(6):891-6. [Medline].
Fireman P, et al. Ataxia-telangiectasia: a dysgammaglobulinemia with deficient Gamma 1A (B2A) Globulin. Lancet. 1964;1:1193-5.
Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. Dec 8 1988;336(6199):577-80. [Medline].
Gatti RA, Boder E, Vinters HV, et al. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore). Mar 1991;70(2):99-117. [Medline].
Harley RD, Baird HW, Craven EM. Ataxia-telangiectasia. Report of seven cases. Arch Ophthalmol. May 1967;77(5):582-92. [Medline].
Karpati G, et al. Ataxia-telangiectasia. Am J Dis Child. 1965;110:51.
Khan AO, Oystreck DT, Koenig M, et al. Ophthalmic features of ataxia telangiectasia-like disorder. J AAPOS. Apr 2008;12(2):186-9. [Medline].
Lewis RF, Crawford TO. Slow target-directed eye movements in ataxia-telangiectasia. Invest Ophthalmol Vis Sci. Mar 2002;43(3):686-91. [Medline].
Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol. Sep 1999;46(3):287-95. [Medline].
Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. Sep 2003;10(3):173-82. [Medline].
Riise R, Ygge J, Lindman C, et al. Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study. Acta Ophthalmol Scand. Aug 2007;85(5):557-62. [Medline].
Swift M, Reitnauer PJ, Morrell D, et al. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med. May 21 1987;316(21):1289-94. [Medline].
Tadjoedin MK, et al. Hereditary of Ataxia-Telangiectasia (Louis-Bar Syndrome). Amer J Dis Child. July 1965;110.
Further Reading
Keywords
ataxia-telangiectasia, ataxia telangiectasia, AT, A-T, Louis-Bar syndrome, Boder-Sedgwick syndrome, cerebellar ataxia, oculocutaneous telangiectasia, respiratory infection, sinus infection
Treatment & Medication: Ataxia-telangiectasia