AATF
Understanding Ataxia-Telangiectasia (A-T)
Description:
Ataxia-Telangiectasia (A-T) is a rare, inherited neurodegenerative disorder characterized by progressive neurological symptoms, immune dysfunction, and an increased risk of cancer. It is caused by mutations in the ATM gene, which plays a crucial role in repairing damaged DNA.
Associated Diseases:
A-T affects multiple body systems and can lead to various health complications, including:
- Neurological: Ataxia (difficulty with balance and coordination), progressive movement disorders, intellectual disability, and seizures.
- Immune: Recurrent infections (sinus, lung, skin), autoimmune diseases (celiac disease, thyroiditis), and immunodeficiency.
- Endocrine: Growth hormone deficiency, delayed puberty, and insulin resistance.
- Cancer: Increased risk of leukemia, lymphoma, brain tumors, and other cancers.
Did you Know ?
- A-T occurs in approximately 1 in 40,000 to 100,000 live births worldwide.
