Ataxia-telangiectasia (A-T) is a rare, progressive genetic disorder that can affect many parts of the body. It is characterized by a combination of neurological, immune system, and other symptoms. The primary symptoms include progressive difficulty with balance and coordination (ataxia), as well as the appearance of small, red spots on the whites of the eyes (telangiectasia). Other symptoms may include impaired immune system function, respiratory problems, and an increased risk of certain types of cancer.
Progression of Ataxia-Telangiectasia
Ataxia-telangiectasia is a progressive disorder, meaning that symptoms worsen over time. As the disease progresses, people with A-T typically experience increasing difficulty with coordination and balance. They may also experience a decline in cognitive functioning, and develop swallowing difficulties, breathing problems, and other issues with mobility.
Diagnosis of Ataxia-Telangiectasia
Ataxia-telangiectasia is usually diagnosed in childhood, but it may not be identified until adulthood. A diagnosis of A-T is typically based on a combination of clinical findings, family history, and genetic testing.
Treatment of Ataxia-Telangiectasia
Ataxia-telangiectasia is a progressive disorder, so there is no cure. Treatment focuses on managing symptoms and addressing any complications that may arise. Medications may be prescribed to help with coordination, balance, and other symptoms. Physical, occupational, and speech therapy can also be beneficial.