Ataxia-Telangiectasia

Ataxia-Telangiectasia is a rare genetic disorder that primarily affects the nervous system and the body's ability to fight infections. It causes problems with movement coordination, leading to difficulty walking and balancing, known as ataxia. People with this condition also develop small, widened blood vessels called telangiectasias, especially in the eyes and skin. The disorder weakens the immune system, making individuals more prone to frequent infections. It also increases the risk of developing certain cancers. Overall, it is a serious condition that impacts multiple body systems and requires careful medical attention.

Ataxia-Telangiectasia is an autosomal recessive disorder caused by mutations in the ATM gene, which encodes a protein kinase critical for DNA damage response and cell cycle control. The core pathology involves defective repair of double-strand DNA breaks, leading to genomic instability. Clinically, it presents with progressive cerebellar ataxia beginning in early childhood, oculocutaneous telangiectasias, and immunodeficiency affecting both humoral and cellular immunity. Patients have increased sensitivity to ionizing radiation and a predisposition to malignancies, particularly lymphoid cancers. The disease also features elevated serum alpha-fetoprotein and progressive pulmonary complications. The combination of neurological decline, immune dysfunction, and cancer risk defines the major clinical significance of this disorder.