Ataxia-telangiectasia: Symptoms, Causes and Outlook - Cleveland Clinic
2022年7月6日 · Ataxia-telangiectasia (A-T), also known as Louis-Bar Syndrome, is a rare genetic condition that targets the nervous system, immune system and other systems throughout your body. The condition is neurodegenerative when cells in your body’s central nervous system progressively stop working.
Ataxia-Telangiectasia - StatPearls - NCBI Bookshelf
2024年3月6日 · Ataxia-telangiectasia (A-T) is a rare inherited form of autosomal recessive neurodegenerative ataxia with onset in early childhood. Clinically, this syndrome manifests a combination of neurological and systemic symptoms due to the mutation of the ataxia-telangiectasia mutated (ATM) gene.
Ataxia–telangiectasia - Wikipedia
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [2]
Ataxia Telangiectasia | National Institute of Neurological …
2024年7月19日 · What is ataxia telangiectasia? Ataxia Telangiectasia (AT)—also known as Louis-Bar syndrome, cerebello-oculocutaneous telangiectasia, or immunodeficiency with ataxia telangiectasia—is a rare inherited childhood neurological disorder that affects the part of the brain that controls motor movement (intended movement of muscles) and speech.
Ataxia-telangiectasia | About the Disease | GARD - Genetic and …
Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system ...
Ataxia-Telangiectasia - Children's Hospital of Philadelphia
What is ataxia-telangiectasia? Ataxia-telangiectasia (AT) is a rare inherited condition that affects the nervous system, the immune system and other body systems. It is characterized by the presence of: Progressive ataxia (lack of coordination) due to a defect in the cerebellum (the part of the brain involved in coordinating the movement of ...
Learn About A-T | A-T Children's Project
Ataxia-telangiectasia (A-T) is a rare genetic disease that causes loss of muscle control and balance, cancer, lung disease and immune system problems in children and young adults. A-T Basics Causes: A-T is a genetic disease. When someone has A-T, it means they have specific changes or variants in their DNA.
Ataxia-telangiectasia: MedlinePlus Genetics
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5.
Ataxia Telangiectasia (A-T) - Johns Hopkins Medicine
Ataxia telangiectasia (A-T) is a rare, inherited disease that affects several organs and systems, including the nervous and the immune systems. Most notably, it causes progressive degeneration of the cerebellum, the part of the brain that controls movement and speech. Symptoms develop in early childhood.
Ataxia-Telangiectasia - Ataxia-Telangiectasia - Merck Manual ...
Key Points. Ataxia-telangiectasia results from a DNA repair defect that frequently results in humoral and cellular immunodeficiency; it causes progressive cerebellar ataxia, oculocutaneous telangiectasias, and recurrent sinopulmonary infections. …