Ataxia Telangiectasia (A-T)
Description
Ataxia telangiectasia (A-T) is a rare, progressive neurodevelopmental disorder that primarily affects the nervous system and immune system. This condition is characterized by a range of symptoms, including movement difficulties, immune deficiencies, and an increased risk of certain cancers. A-T is caused by mutations in the ATM gene, which plays a crucial role in DNA repair. This article provides comprehensive information on A-T, covering its signs and symptoms, causes, inheritance patterns, diagnosis, management, and ways families can thrive with this condition.
Genes Involved
Genes Involved in Ataxia Telangiectasia: The primary gene responsible for A-T is the ATM gene, located on chromosome 11. This gene provides instructions for producing the ATM protein, a crucial component in DNA repair pathways.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of Ataxia Telangiectasia:
- Movement Disorders: Ataxia, a lack of coordination, is a hallmark symptom. This can manifest as unsteady gait, difficulty with fine motor skills, and slurred speech.
- Telangiectasia: Dilated blood vessels, often appearing as red or purple marks, are found on the face, ears, and eyes. These are typically more prominent in later stages of the disease.
- Immunodeficiency: Individuals with A-T are more susceptible to infections due to impaired immune system function.
- Neurological Impairment: Cognitive difficulties, including learning disabilities and developmental delays, are common.
- Increased Cancer Risk: A-T patients have a significantly higher risk of developing various types of cancers, particularly leukemia and lymphoma.
- Other Potential Symptoms: These may include eye problems, delayed puberty, and increased sensitivity to radiation.
Causes
Causes of Ataxia Telangiectasia: A-T is caused by mutations in the ATM gene. These mutations disrupt the ATM protein‘s ability to repair damaged DNA, leading to the accumulation of genetic errors that contribute to the disorder‘s characteristic symptoms.
Inheritance/recurrence risk
Inheritance or Recurrence Risk of Ataxia Telangiectasia: A-T is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated ATM gene for their child to have the disorder. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit the condition. Genetic testing can help identify carriers and assess the risk of having a child with A-T.
