Conditions & Treatments

Ataxia Telangiectasia (A-T)

Ataxia telangiectasia is a rare childhood disease that affects the nervous system and some other body systems.

Ataxia Telangiectasia (A-T)

Ataxia telangiectasia (A-T) is a rare inherited childhood disease that affects the nervous system and other body systems. The effects of A-T usually begin to appear by the age of 5 in a child affected by the disease. 

What causes A-T?

A-T is caused by mutations in a gene on chromosome 11 known as the ATM gene, which is involved in cell cycle control. This neurodegenerative disorder is inherited in an autosomal recessive fashion, which means that two mutated ATM genes are necessary to produce the condition--one inherited from each parent. People with only one ATM mutation are referred to as "carriers."

Some studies suggest that people who are carriers of an ATM mutation are at an increased risk to develop breast cancer. It is estimated that about 1 percent of the U.S. population, or about 2.5 million people, may be carriers for an ATM mutation. This may lead one to believe that many people with breast cancer develop it because of an ATM mutation. When breast cancer patients are studied, however, they do not have an excess of ATM mutations as compared with people without breast cancer. Therefore, the association between ATM mutations and breast cancer risk remains unclear. Studies are being done to better understand this possible link.  

What are the symptoms of A-T? 

Symptoms of A-T can develop in early childhood, but may develop later in adolescence or adulthood. Symptoms may include: 

  • Poor balance and slurred speech

  • Ataxia (lack of muscle control leading to an awkward gait when walking)

  • Telangiectasias (tiny, red "spider" veins) in the corners of the eyes or surfaces of the ears and cheeks (soon after the onset of ataxia)

Other symptoms of A-T include:

  • Weakened immune system

  • Increased risk of leukemia

  • Increased risk of lymphoma

  • Extreme sensitivity to ionizing radiation (for instance, radiation from X-rays)

The symptoms of A-T may resemble other conditions or medical problems. A doctor should be consulted for a diagnosis. 

How is A-T treated? 

There currently is no cure for A-T. It is managed by treating the symptoms and supportive care. Treatment for A-T may include:

  • Physical therapy

  • Speech therapy

Treatment Programs


Massachusetts General Hospital understands that a variety of factors influence patients' health care decisions. That's just one reason why we're dedicated to ensuring patients understand their diagnosis and treatment options. Because a single option might not serve all patients, we offer a wide range of coordinated treatments and related services across the hospital. Patients should consult with their primary care doctor or other qualified health care provider for medical advice and diagnosis information.

Select a treatment program for more information:



Imaging

  • Pediatric Imaging
    The Pediatric Imaging Program at Massachusetts General Hospital Imaging specializes in ensuring the safety and comfort of child patients while providing the latest technology and the expertise of specialized pediatric radiologists.
  • Neuroendovascular Program
    Working as part of the Vascular Center, the interventional specialists of the Neuroendovascular Program perform minimally invasive, image-guided treatments for conditions including stroke and cerebral aneurysm. These same interventionalists also use minimally invasive techniques to treat non-vascular conditions including herniated disc and vertebral fractures. In addition, our specialty-trained radiologists use the latest imaging technologies to provide diagnostic exams for a full range of neurological conditions.
MassGeneral Hospital for Children

  • Pediatric Neurosurgery
    The Pediatric Neurosurgery service at MassGeneral Hospital for Children diagnoses and treats all neurosurgical conditions of infants, children and adolescents, with special expertise in the management of pediatric brain tumors, hydrocephalus, spinal cord disorders, Chiari malformations, craniosynostosis, AVM's and epilepsy surgery.
Department of Neurology

  • Neuro-ophthalmology Service
    The Neuro-ophthalmology Service at Massachusetts General Hospital provides expert evaluation, diagnosis and treatment for patients who have vision problems with a neurologic basis.
  • Ataxia Unit
    The Massachusetts General Hospital Ataxia Unit provides expert diagnosis, treatment and education for patients with ataxia and other cerebellar disorders.
  • General Pediatric Neurology
    General Pediatric Neurology physicians diagnose and treat all neurological disorders in children, infants and adolescents.

View all departments

Departments and Centers at Mass General have a reputation for excellence in patient care. View a list of all departments.