Ataxia Telangiectasia

Ataxia telangiectasia (AT) is a rare, inherited disorder that affects the nervous system, immune system, and other bodily systems. It is characterized by difficulty with coordination and balance (ataxia) and the presence of spider-like dilated blood vessels in the eyes and skin (telangiectasia).

Causes and Genetics

Ataxia telangiectasia is caused by mutations in the ATM gene, which provides instructions for making a protein that helps control the rate at which cells grow and divide. This protein also plays a critical role in the repair of damaged DNA. Mutations in the ATM gene lead to the production of a defective protein, resulting in the characteristic features of AT.

Symptoms

The symptoms of ataxia telangiectasia typically begin in early childhood, around 1-3 years of age. The initial symptoms may include:

• Difficulty with balance and coordination (ataxia)
• Delayed development of motor skills, such as walking and balance
• Telangiectasia (dilated blood vessels) in the eyes and skin
• Sensitivity to radiation
• Increased risk of infections due to immune system dysfunction
• Increased risk of cancer, particularly leukemia and lymphoma

Diagnosis

Diagnosis of ataxia telangiectasia is based on a combination of clinical evaluation, laboratory tests, and genetic analysis. The following tests may be used to diagnose AT:

• Physical examination to assess coordination and balance
• Neurological examination to evaluate cognitive function and reflexes
• Laboratory tests to evaluate immune system function and detect telangiectasia
• Genetic testing to identify mutations in the ATM gene

Treatment and Management

There is no cure for ataxia telangiectasia, but various treatments can help manage the symptoms and prevent complications. These may include:

• Physical therapy to improve coordination and balance
• Occupational therapy to develop adaptive skills
• Speech therapy to address communication difficulties
• Medications to treat infections and manage immune system dysfunction
• Radiation therapy to treat cancer, if necessary

Prognosis

The prognosis for individuals with ataxia telangiectasia is generally poor, with a reduced life expectancy. Most people with AT die in their teens or early twenties due to complications such as infections, cancer, or respiratory failure.