Summary about Disease
Ataxia-telangiectasia (A-T) is a rare, inherited genetic disorder that affects the nervous system, immune system, and other body systems. It is characterized by progressive difficulty with coordination (ataxia), small widened blood vessels (telangiectasias), and an increased risk of infections and cancer. A-T is caused by mutations in the ATM gene, which plays a role in DNA repair and cell cycle control.
Symptoms
Ataxia: Difficulty with balance and coordination, often appearing between ages 1 and 4. This may present as unsteady gait, clumsiness, and difficulty with fine motor skills.
Telangiectasias: Small, widened blood vessels, especially in the eyes (conjunctiva), skin, and ears.
Slurred speech: Difficulty speaking clearly.
Slowed eye movements: Difficulty smoothly tracking objects with the eyes.
Immune deficiencies: Increased susceptibility to infections, particularly respiratory infections.
Increased risk of cancer: Especially leukemia and lymphoma.
Premature aging: Graying of hair, skin changes.
Developmental delays: Slower than normal development of motor skills.
Chorea: Involuntary, jerky movements.
Dystonia: Sustained muscle contractions that cause twisting and repetitive movements or abnormal postures.
Causes
Ataxia-telangiectasia is caused by mutations in the ATM (ataxia-telangiectasia mutated) gene. This gene provides instructions for making a protein that helps control cell division and DNA repair. Mutations in the ATM gene disrupt the protein's function, leading to problems with DNA repair, cell cycle control, and cell survival. A-T is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for a child to be affected.
Medicine Used
There is no cure for ataxia-telangiectasia, and treatment focuses on managing the symptoms and complications:
Physical therapy: To help improve muscle strength, coordination, and mobility.
Occupational therapy: To help with daily living skills.
Speech therapy: To improve speech and swallowing.
Antibiotics: To treat infections.
Intravenous immunoglobulin (IVIG) therapy: To boost the immune system in individuals with immune deficiencies.
Medications to manage neurological symptoms: such as chorea and dystonia.
Cancer treatment: Chemotherapy, radiation therapy, or other cancer treatments as needed.
Nutritional support: To ensure adequate nutrition.
Is Communicable
No, ataxia-telangiectasia is not communicable. It is a genetic disorder caused by mutations in the ATM gene and cannot be spread from person to person.
Precautions
Minimize exposure to radiation: Individuals with A-T are very sensitive to radiation, including X-rays. Precautions should be taken to minimize exposure to ionizing radiation.
Prevent infections: Frequent handwashing, avoiding contact with sick people, and receiving recommended vaccinations can help prevent infections.
Manage nutrition: Ensuring adequate nutrition can help maintain overall health.
Sun protection: Protect skin from sun exposure due to increased risk of skin cancer.
Monitor for cancer: Regular monitoring for signs of cancer is important.
Genetic counseling: Genetic counseling is recommended for families with a history of A-T.
How long does an outbreak last?
A-T is not an infectious disease, so it does not have "outbreaks." It is a chronic, progressive condition. The symptoms gradually worsen over time.
How is it diagnosed?
Diagnosis of ataxia-telangiectasia typically involves:
Clinical examination: Assessment of the individual's symptoms, including ataxia, telangiectasias, and other characteristic features.
Neurological evaluation: Evaluation of motor skills, coordination, and reflexes.
Blood tests: Measurement of alpha-fetoprotein (AFP) levels, which are often elevated in individuals with A-T. Immunoglobulin levels may also be checked to assess immune function.
Genetic testing: Confirmation of the diagnosis through genetic testing to identify mutations in the ATM gene.
Brain MRI: To evaluate for any structural abnormalities in the brain.
Timeline of Symptoms
Infancy/Early Childhood (1-4 years):
Delayed motor skills (e.g., sitting, crawling, walking).
Ataxia (difficulty with balance and coordination).
Unsteady gait.
Preschool/Early School Years (4-8 years):
Worsening ataxia.
Slurred speech.
Slowed eye movements.
Appearance of telangiectasias in the eyes.
School Age/Adolescence (8+ years):
Progressive neurological decline.
Increased susceptibility to infections.
Potential development of chorea or dystonia.
Premature aging signs (e.g., graying hair).
Increased risk of cancer. The rate of progression varies from person to person.
Important Considerations
Sensitivity to radiation: People with A-T are highly sensitive to ionizing radiation, such as X-rays and radiation therapy. This sensitivity must be considered when making medical decisions.
Immunodeficiency: Immune problems can lead to frequent and severe infections. Prophylactic antibiotics or immunoglobulin therapy may be needed.
Cancer risk: Increased risk of certain cancers, especially leukemia and lymphoma. Regular monitoring is crucial.
Progressive nature: A-T is a progressive disorder, and symptoms will worsen over time. Supportive care is essential.
Family support: A-T affects the entire family. Support groups and genetic counseling can provide valuable resources.
Variability: The severity and progression of A-T can vary considerably among affected individuals.
Respiratory Issues: Respiratory problems are common and can be a significant cause of morbidity.
Medication side effects: Be vigilant about monitoring and managing side effects from any medications used.