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 | National Institute of Neurological …
Ataxia telangiectasia (AT)—also known as Louis-Bar syndrome, cerebello-oculocutaneous telangiectasia, and 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: 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 - 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 - 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 | About the Disease | GARD - Genetic and …
A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms).
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.
Ataxia-Telangiectasia - Children's Hospital of Philadelphia
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: AT occurs in one in 40,000 to 100,000 live births in the United States and it …
Ataxia-telangiectasia (A-T) - American Cancer Society
Ataxia-telangiectasia (A-T) is a rare hereditary condition that affects the nervous system, immune system, and other body systems. Other names for A-T include Louis-Bar syndrome, cerebello-oculocutaneous telangiectasia, and immunodeficiency with ataxia telangiectasia. What are the effects of ataxia-telangiectasia (A-T)?
Ataxia-Telangiectasia | St. Jude Care & Treatment
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.