Pronouced as "ay-TACK-see-uh_Tell-Ange-EK-Tasia"
Also referred to as Louis–Bar syndrome
Also referred to as Louis–Bar syndrome
What is Ataxia-Telangiectasia (A-T)?
Imagine a disease that combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis, immune deficiencies and cancer. Children with A-T are usually confined to wheelchairs by age 10 and often do not survive their teens. Because A-T is a multi-system disease, scientists believe that A-T research will help more prevalent diseases such as Alzheimer's, Parkinson's, AIDS and cancer.
A-T is a rare and complex genetic, hereditary progressive neurodegenerative disorder that begins in early childhood. The most debilitating symptom is the progressively worsening ataxia or loss of balance. The underlying problem is a gradual and continual loss of certain types of cells in the cerebellum of the brain, which control and coordinate the movement of limbs, fingers, eyes, tongue, etc. It is thought that because the cells lack a protein named ATM (for ataxia-telangiectasia mutated), they do not recognize and repair breaks in the DNA (which carries the code for our genes). These DNA breaks occur all the time in all of us. But because the ATM protein controls over 700 other proteins that help cells to repair DNA, when there is not enough ATM protein, the DNA damage accumulates and eventually leads to the death of individual cells, especially in the central nervous system.
Imagine a disease that combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis, immune deficiencies and cancer. Children with A-T are usually confined to wheelchairs by age 10 and often do not survive their teens. Because A-T is a multi-system disease, scientists believe that A-T research will help more prevalent diseases such as Alzheimer's, Parkinson's, AIDS and cancer.
A-T is a rare and complex genetic, hereditary progressive neurodegenerative disorder that begins in early childhood. The most debilitating symptom is the progressively worsening ataxia or loss of balance. The underlying problem is a gradual and continual loss of certain types of cells in the cerebellum of the brain, which control and coordinate the movement of limbs, fingers, eyes, tongue, etc. It is thought that because the cells lack a protein named ATM (for ataxia-telangiectasia mutated), they do not recognize and repair breaks in the DNA (which carries the code for our genes). These DNA breaks occur all the time in all of us. But because the ATM protein controls over 700 other proteins that help cells to repair DNA, when there is not enough ATM protein, the DNA damage accumulates and eventually leads to the death of individual cells, especially in the central nervous system.