AATK-AS1
Title: An In-Depth Look into Ataxia-Telangiectasia (A-T)
Description:
Ataxia-telangiectasia (A-T) is a rare, progressive genetic disorder characterized by severe neurological symptoms and an increased risk of certain cancers. It is caused by a mutation in the ATM gene, which plays a crucial role in DNA repair and cellular responses to DNA damage.
Associated Diseases:
Individuals with A-T may experience a wide range of health conditions, including:
- Neurological symptoms: Coordination problems (ataxia), slurred speech, involuntary eye movements, progressive muscle weakness, and impaired cognition
- Immunodeficiency: Weakened immune system, leading to recurrent infections
- Cancer: Increased risk of developing blood cancers (leukemia, lymphoma), solid tumors (osteosarcoma, medulloblastoma), and breast cancer
- Other complications: Skin rashes (telangiectasias), eye disorders (cataracts, conjunctivitis)
Did you Know ?
The estimated prevalence of A-T worldwide is approximately 1 in 40,000 to 100,000 individuals.
