Ataxia-telangiectasia: Symptoms, Causes and Outlook - Cleveland Clinic
网页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 | National Institute of Neurological …
网页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 - Wikipedia
网页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 - StatPearls - NCBI Bookshelf
网页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 - Symptoms, Causes, Treatment | NORD
网页2022年10月27日 · Ataxia-telangiectasia-like disorder (ATLD) is an autosomal disorder that develops during childhood. Patients typically have cerebellar atrophy, dysarthria and difficulties walking. They also experience oculomotor apraxia and sensitivity to radiation.
Ataxia-telangiectasia: MedlinePlus Genetics
网页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 …
Ataxia-Telangiectasia - Children's Hospital of Philadelphia
网页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 ...
Ataxia-telangiectasia | About the Disease | GARD - Genetic and …
网页Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body.
Ataxia Telangiectasia (A-T) - Johns Hopkins Medicine
网页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 …
Ataxia-Telangiectasia | St. Jude Care & Treatment
网页Ataxia-telangiectasia (A-T) is a rare genetic condition that affects the nervous system, immune system, and other body systems. Children with this condition have trouble coordinating their movements, which is called ataxia.