1. By: Kelly Gaffney Ataxia Telangiecsta

2. What is Ataxia Telangiectasia? A rare, neurodegenerative, inherited disease causing severe disability Also referred to as A-T 3. Symptoms of the Disorder Ataxia= difficult with control of movement It is apparent early but worsens in school to preteen years. Telangiecsta= dilated blood vessels Often appears over the sclera of eyes, making them appear blood shot. Not apparent in infancy and may appear at age 5-8. Involuntary movements Problems with infections, especially of the ears, sinuses and lungs Delayed onset or incomplete pubertal development, and very early menopause Slowed rate of growth (weight and/or height) Drooling particularly in young children when they are tired or concentrating on activities Dysarthria (slurred, slow, or distorted speech sounds) 4. Symptoms of this Disorder (cont.) Dilated blood vessels over the white (sclera) of the eyes 5. Symptoms of the Disorder (cont.) Dilated blood vessels on the ear 6. Diagnosis of the Disorder The diagnosis of A-T is usually suspected by the symptoms, and confirmed by laboratory abnormalities. These abnormalities include: Elevated and slowly increasing alpha-fetoprotein levels in serum after 2 years of age Immunodeficiency with low levels of immunoglobulins (especially IgA, IgG subclasses, and IgE) and low number of lymphocytes in the blood Chromosomal instability-broken pieces of chromosomes Increased sensitivity of cells to x-ray exposure (cells die or develop even more breaks and other damage to chromosomes) Cerebellar atrophy on MRI scan 7. Diagnosis of the Disorder (cont.) The diagnosis can be confirmed in the laboratory by finding an absence or deficiency of the ATM protein in cultured blood cells, an absence or deficiency of ATM function, or mutations in both copies of the cells ATM gene. Note: These more specialized tests are not always needed, but are particularly helpful if a childs symptoms are atypical. 8. Causes of the Disorder Mutations in the ATM gene cause A-T. Mutations in the ATM gene reduce or eliminate the fxn of the ATM protein The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. The protein is important for normal development and activity of several body symptoms. 9. Epidemiology Individuals of all races and ethnicities are affected equally. The incidence world-wide is estimated to be between 1 in 40,000 and 1 in 100,000 people How is it inherited? The mode of inheritance for A-T is autosomal recessive autosomal recessive. Each parent is a carrier, meaning that they have one normal copy of the A-T gene (ATM) and one copy which is mutated. A-T occurs if a child inherits the mutated A-T gene from each parent, so in a family with two carrier parents, there is 1 chance in 4 that a child born to the parents will have the disorder. 10. How do people inherit A-T? The mode of inheritance for A-T is autosomal recessive. Each parent is a carrier, meaning that they have one normal copy of the ATM gene and one copy which is mutated. A-T occurs if a child inherits the mutated ATM from each parent. Ex: In a family with two carrier parents, there is 1 chance in 4 that a child born to the parents will have the disorder. 11. Treatments for the Disorder Unfortunately, there are no treatments for the disorder. Treatment is symptomatic and supportive. Physical, occupational and speech therapies and exercise may help maintain function. Some people with A-T need additional immunizations, antibiotics to provide protection from infections, and/or infusions of immunoglobulins. 12. Prognosis The average life span has been improving for years, for unknown reasons. If an individual patients susceptibility to infection increases, it is important to reassess immune function. If infections are occurring in the lung, it is also important to investigate the possibility of dysfunctional swallow with aspiration into the lungs. 13. Bibliography "Ataxia-telangiectasia." - Genetics Home Reference. N.p., n.d. Web. 18 Mar. 2014. "Ataxia Telangiectasia - National Cancer Institute." Ataxia Telangiectasia - National Cancer Institute. N.p., n.d. Web. 18 Mar. 2014. "Ataxia Telangiectasia." Wikipedia. Wikimedia Foundation, 16 Mar. 2014. Web. 18 Mar. 2014. "NINDS Ataxia Telangiectasia Information Page." Ataxia Telangiectasia Information Page: National Institute of Neurological Disorders and Stroke (NINDS). National Institutes of Health, 27 Dec. 2013. Web. 18 Mar. 2014.