What are the symptoms of ataxia-telangiectasia? Two defining characteristics of ataxia-telangiectasia are difficulty with coordination (ataxia) and small zig-zag clusters of blood vessels forming in the eyes and on the skin (telangiectasia).

2024年7月19日 · Neurological symptoms include: Unsteady walking and lack of balance; Lack of coordination of movement; Slurred speech; Difficulty swallowing; Unintentional movement, such as tremor or jerky movement; Difficulty coordinating eye movement; Other symptoms may include: Frequent respiratory infections

2022年10月27日 · Ataxia telangiectasia (AT) is a complex neurodegenerative disorder. Symptoms associated with AT usually present during the preschool years between one and four years of age. An unsteady gait (ataxia) is often the first sign of AT.

2020年9月9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 (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.

Children with AT between ages 1 and 4 may show signs of : Over time, affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in …

Symptoms of A-T can develop in early childhood. But they may not show up until the teen years or adulthood. Symptoms may include: Lack of muscle control (ataxia). This causes an awkward gait when walking. Tiny red spider veins (telangiectasias) in the corners of the eyes or …

Ataxia-telangiectasia usually progresses to paralysis, dementia, and death, typically by age 30. Doctors suspect ataxia-telangiectasia based on symptoms. Blood tests to measure the levels of IgA, and genetic tests can help confirm the diagnosis.

Symptoms of Ataxia-Telangiectasia Incoordination (ataxia) usually develops when children begin to walk, but it may be delayed until age 4. Speech becomes slurred, and muscles progressively weaken, leading to severe disability.

Ataxia is frequently the first symptom and usually develops when children begin to walk. Progression of neurologic symptoms leads to severe disability. Speech becomes slurred, choreoathetoid movements and nystagmus develop, and muscle weakness usually progresses to muscle atrophy.