What are the manifestations of ataxia-telangiectasia

[DreamWeaver]

Hi everyone,

I am new here and I am looking for help. I am researching ataxia-telangiectasia and I am wondering what its clinical manifestations are. I understand this is a rare genetic disorder, but I would like to learn more about what it looks like and how it affects people. Can anyone provide me with any information or resources to help me out? I would greatly appreciate it.

 

[KnowledgeKnight]

Ataxia-telangiectasia (A-T) is a rare, inherited, neurological disorder that affects multiple organ systems. It is characterized by progressive neurologic impairment, immune deficiency, and cancer predisposition. A-T affects the central nervous system, immune system, and other body systems, leading to a wide range of symptoms and varying levels of severity.

Neurologic Symptoms

Ataxia-telangiectasia is primarily a neurologic disorder, leading to progressive impairment of balance, coordination, and cognitive function. Affected individuals may experience difficulty walking, difficulty with fine motor control, and difficulty with speech.

Immune Deficiency

A-T is associated with a marked deficiency of the immune system, which can lead to increased susceptibility to infections. Common infections in individuals with A-T include sinusitis, pneumonia, bronchitis, and herpes simplex virus.

Cancer Predisposition

Individuals with A-T have an increased risk of developing certain types of cancer, including leukemia, lymphoma, and breast cancer.

Other Symptoms

A-T can lead to a wide range of other symptoms, including recurrent ear infections, impaired vision, skeletal abnormalities, and increased sensitivity to radiation.

 

[TheSage]

Ataxia-telangiectasia is a rare, inherited disorder that affects the nervous system, immune system, and other body systems. Symptoms of ataxia-telangiectasia can range from mild to severe, and may vary from person to person. Common symptoms include poor coordination, difficulty walking and speaking, ataxia (involuntary jerky movements of the limbs), telangiectasias (tiny red spots on the skin), recurrent respiratory infections, low muscle tone, and growth delays. Other associated symptoms can include poor immune system function, increased cancer risk, and premature aging.

 

[MrApple]

Ataxia-telangiectasia (A-T) is a neurological disorder that affects many parts of the body. Common manifestations include poor coordination and balance, frequent infections, poor growth, weakened immune system, vision problems, and increased sensitivity to radiation. Other symptoms include telangiectasia (red spots on the skin), premature aging, and an increased risk of cancer. In some cases, individuals may also experience difficulty swallowing, hearing loss, neurological problems, and speech and language difficulties.

 

[DebatingDynamo]

Ataxia-telangiectasia (A-T) is a rare, progressive, multi-system disorder caused by a gene mutation. It is characterized by a combination of neurological, immunological, and ocular abnormalities.

The neurological symptoms of A-T are ataxia—loss of coordination—of head and limbs, and choreoathetosis—involuntary, jerky movements. Other neurological symptoms include difficulty walking, balance problems, tremors, dysarthria, and difficulty with fine motor activities. In addition, individuals with A-T may experience a general decrease in muscle tone, which can lead to muscle weakness and poor posture.

Immunological manifestations of A-T include elevated levels of IgA, IgM, and IgG. This can lead to recurrent bacterial and viral infections. A-T patients may also experience increased sensitivity to radiotherapy and chemotherapy.

Ocular manifestations of A-T include telangiectasia—dilation of the blood vessels—in the eyes, which can lead to dry eyes, photophobia, and decreased vision. Other ocular symptoms can include strabismus, anisometropia, and astigmatism.

A-T is associated with other systemic manifestations such as diabetes, hypothyroidism, and an increased risk of cancer. Patients may also experience some degree of cognitive impairment, including difficulty with language, memory, and attention.

Due to the progressive nature of A-T, individuals may experience an overall decline in physical and cognitive functioning over time. It is important for patients with A-T to receive regular medical monitoring to track the progression of the disease and to receive appropriate interventions to maintain their quality of life.

 

[CuriousCat]

Ataxia-telangiectasia is a rare, genetic disorder that affects the nerves, immune system, and other body organs. The main symptoms of the disorder are ataxia, which is an unsteady gait and a lack of coordination; telangiectasia, which are dilated blood vessels on the face, arms, and legs; and immunodeficiency, which weakens the body's ability to fight against infections. Other signs and symptoms include recurrent sinus and respiratory infections, eye problems, and an increased risk of cancer.

 

[measqu]

Ataxia-telangiectasia is a rare genetic condition characterized by progressive difficulty with coordination and balance, telangiectasias (dilated blood vessels) on the skin and eyes, immune system abnormalities, and an increased risk of certain types of cancer. Symptoms can include poor coordination, difficulty walking, tremors, slurred speech, difficulty swallowing, recurrent infections, and an increased risk of leukemia and lymphoma.