What does A-T mean in CLINICAL MEDICINE
Ataxia-telangiectasia (A-T) is an inherited, rare genetic disorder that affects the nervous system and other bodily organs. It is characterized by progressive neurological disability, oncogenesis, immunodeficiency, and premature aging. The condition was first reported in 1944 by German physician Dr. Gertrude Schinzel and is often referred to as Schinzel-Giedion syndrome. A-T primarily affects children, although adults can be affected as well. This article will explain what A-T means in medical terms, its full form, and the symptoms associated with it.
A-T meaning in Clinical Medicine in Medical
A-T mostly used in an acronym Clinical Medicine in Category Medical that means Ataxia-telangiectasia
Shorthand: A-T,
Full Form: Ataxia-telangiectasia
For more information of "Ataxia-telangiectasia", see the section below.
What Does A-T Mean in Medical Terms?
A-T stands for Ataxia-telangiectasia, which is an inherited genetic disorder caused by a mutation of the ATM gene on chromosome 11. It is characterized by neurologic dysfunction including ataxia (lack of muscle control), telangiectases (abnormal dilation of small blood vessels), impaired immune system functioning, ocular defects such as conjunctivitis and corneal ulcers, respiratory issues such as bronchiectasis or lung infections leading to pneumonia or bronchitis, endocrinopathy involving growth hormone deficiency and diabetes mellitus type 1B, frequent infections including chickenpox or herpes zoster virus infection due to impaired cell mediated immunity and increased susceptibility to cancer affecting primarily solid tissues such as lymphoma or sarcoma.
Full Form of A-T
The full form of A-T is Ataxia-telangiectasia. This disorder affects people from infancy to adulthood with varying symptom severity depending on age at diagnosis. Symptoms include poor coordination and balance (ataxia), jerky eye movements (nystagmus), difficulty speaking (expressive dysphasia), learning disabilities including intellectual disability or lowered IQ with age dependent progression of impairment impacting cognitive abilities in areas like language skills or memory deficits over time due to cortical atrophy, exaggerated response to X rays compared to healthy individuals resulting in increased radiation sensitivity postulatedly due to defective repair mechanisms leading to increased cancer risk from radiotherapy treatment modalities like chemotherapy etc., recurring otitis media leading to sensorineural hearing loss from middle ear effusions not responding sufficiently well enough with antibiotics alone which increases risk for social isolation later on in life if left untreated for long periods of time. Other systemic manifestations may include scoliosis progressing over time within affected individuals along with cerebellar hypoplasia denoting decreased brain volume/weight affecting feedback pathways important for maintaining balance further deteriorating coordination skills in sufferers needing special attention with regards to teaching them exercise programs aimed specifically towards improved motor coordination so that gait stability may be achieved more readily thereby preventing falls from occurring as frequently under normal conditions within patients exhibiting relevant abnormalities affecting proprioception signaling pathways leading volitionally intended motioning actions forward bodily instead within a larger neurosensory context than commonly expected.
Essential Questions and Answers on Ataxia-telangiectasia in "MEDICAL»CLINICAL"
What is Ataxia-Telangiectasia?
Ataxia-telangiectasia (AT) is a genetic disorder that affects the nervous system, immune system, and other body systems. It can cause coordination difficulties, weakened muscles, and an increased risk of cancer and infections.
What are the symptoms of Ataxia-Telangiectasia?
Symptoms of AT usually begin in early childhood. Early features may include poor coordination (ataxia), slowed development, frequent ear infections, enlarged lymph nodes, and skin abnormalities like telangiectasias (small red spots on the face or eyes). Other signs may include weak muscles, slowed growth, slurred speech, difficulty swallowing or speaking clearly, vision problems, learning difficulties, and more severe physical disabilities.
How is Ataxia-Telangiectasia diagnosed?
Ataxia-telangiectasia is diagnosed based on symptoms as well as laboratory tests. These test can help confirm a diagnosis by looking for specific gene mutations associated with the condition. Genetic counseling and other imaging tests may also be helpful in diagnosing AT.
Who is at risk for Ataxia-Telangiectasia?
AT is caused by a recessive gene mutation that must be inherited from both parents in order for the condition to occur. This means that both parents must carry the mutated gene in order for their child to have AT. The risk of inheritance increases if one parent carries two copies of the defective gene.
What causes Ataxia-Telangiectasia?
AT is caused by a mutation in the ATM gene located on chromosome 11 which encodes for production of ataxia telangiectasia mutated protein (ATM protein). This protein helps regulate cell division and response to DNA damage; when it’s not working properly cells divide faster than normal resulting in eventual tissue damage due to inflammation as well as errors during cell division leading to progressive impairments seen with AT.
Is there any treatment for Ataxia-Telangiectasia?
There isn’t currently a cure for AT but there are treatments available to help manage some symptoms such as physical therapy to improve balance and coordination; medications like anticonvulsants to manage seizures; antibiotics used prophylactically to prevent infections; speech therapy; occupational therapy; dietary modifications ; specialized eye care; wheelchairs or walkers for mobility assistance; regular monitoring of blood levels for certain markers associated with illnesses related to this disorder.
How does Ataxia-Telangiectasia affect life expectancy?
The life expectancy of individuals with AT varies greatly depending upon severity of condition and how it’s managed medically but generally those affected tend to live into their 30s or 40s.
Final Words:
Ataxia-telangiectasia (A-T) is an inherited genetic disorder caused by a mutation of the ATM gene on chromosome 11 that has a wide range of symptoms that can vary considerably depending on age and severity. Affected individuals typically experience neurologic dysfunction including ataxia (lack of muscle control), telangiectases (abnormal dilation of small blood vessels) ocular defects such as conjunctivitis and corneal ulcers, respiratory issues such as bronchiectasis or lung infections leading to pneumonia or bronchitis, endocrinopathy involving growth hormone deficiency and diabetes mellitus type 1B, frequent infections including chickenpox or herpes zoster virus infection due to impaired cell mediated immunity, exaggerated response to X rays compared with healthy individuals resulting in increased radiation sensitivity postulatedly due defective repair mechanisms leading increase cancer risk from radiotherapy treatment modalities like chemotherapy etc., along with other systemic manifestations like scoliosis progressing over time with cerebellar hypoplasia denoting decreased brain volume/weight impacting feedback pathways essential maintaining balance thereby decreasing coordination even further resulting volitionally intended motioning actions also being adversely affected within an overall neurosensory environment expecting otherwise normally intended results.