What does A-T mean in MEDICAL
Ataxia-telangiectasia (A-T) is a rare, inherited genetic disorder that impacts the nervous system and other organs. It is characterized by slowed motor development, progressive difficulty controlling movement, immune system deficiencies, and an increased risk for certain cancers. A-T is caused by a mutation in the ATM gene.
A-T meaning in Medical in Medical
A-T mostly used in an acronym Medical in Category Medical that means Ataxia-telangiectasia
Full Form: Ataxia-telangiectasia
For more information of "Ataxia-telangiectasia", see the section below.
A-T usually has its onset in childhood and affects both boys and girls. Common symptoms of A-T include difficulty with coordination of movement (ataxia), frequent infections due to weakened immune system, and abnormal widening of small blood vessels on the skin (telangiectasia). Other features can include premature aging, balance problems, slurred speech, hearing loss, eye problems such as inflammation or clouding of the cornea (keratoconus), heart defects, endocrine abnormalities, and cancer predisposition. Most individuals with A-T eventually need wheelchairs for mobility.
The diagnosis of A-T is usually based on medical history and examination findings. A blood test can also be done to look for this ATM gene mutation in affected individuals or their family members. Additional tests may be performed to evaluate associated symptoms such as biochemical tests to look at levels of hormones or vitamins involved in various body functions.
Currently there is no cure for A-T but medications can help control some symptoms and complications. Physical therapy may help improve coordination while respiratory therapy can help ease breathing problems that some patients experience as a result of weak muscles in the chest wall. Regular monitoring of organ systems can help detect any changes early so that treatment could begin promptly if needed. Genetic counseling may be offered to families who have been affected by this condition to provide them with more information regarding inheritance patterns and available resources for support.
Essential Questions and Answers on Ataxia-telangiectasia in "MEDICAL»MEDICAL"
What is Ataxia-telangiectasia?
Ataxia-telangiectasia (A-T) is a rare, inherited neurodegenerative disorder that affects the nervous system and other body systems including the immune system. It can cause issues with balance and coordination, difficulty speaking, hearing loss, eye problems such as drooping eyelids and involuntary rapid eye movements, difficulties in swallowing, and weakened muscles.
How common is Ataxia-Telangiectasia?
Ataxia-telangiectasia (A-T) is a rare genetic disorder that affects approximately one in every 40,000 to 100,000 births worldwide. It affects both sexes equally.
What are some signs and symptoms of A-T?
Common signs and symptoms include difficulty walking or coordinating movements (ataxia), involuntary rapid eye movements (nystagmus), red spots on the skin (telangiectases), frequent respiratory infections caused by compromised immunity, impaired short-term memory or cognition, slurred speech (dysarthria), delayed development of motor skills, and sensitivity to ionizing radiation.
Is there a cure for A-T?
Currently there is no known cure for ataxia-telangiectionasia (A-T). However, there are many treatments available to help manage its symptoms including physical therapy for movement control issues, medications to improve breathing function or reduce inflammation associated with infections or lung conditions, speech therapy for communication difficulties, and occupational therapy to help with daily activities.
What is the life expectancy of someone with A-T?
The life expectancy of someone with ataxia telangiectionaisa (AT) varies depending on the severity of their condition. While most people remain healthy into adulthood some may die prematurely due to respiratory failure caused by recurrent infections. On average people with milder cases tend to live into their fifties while those with more serious cases live into earlier adulthood.
Ataxia-telangiectasia (A-T) is a rare inherited disease that affects many different organs and systems within the body leading to an array of signs and symptoms among affected individuals. While there currently isn't any cure available for this disease yet various treatments exist to manage its associated complications along with supportive therapies such as physical therapy or genetic counseling which aim to reduce the impacts this condition has on quality of life.