Ataxia telangiectasia: an overview

Understanding Ataxia Telangiectasia

Ataxia Telangiectasia is a rare hereditary condition that affects primarily the nervous system along with other organ systems. It leads to progressive movement disorders that begin in early childhood and typically lead to the need for a wheelchair by adolescence. Patients with Ataxia Telangiectasia have a weakened immune system and are prone to co-occurring conditions like lung infection and cancer. While there is no cure for Ataxia Telangiectasia, intensive neuro-rehabilitation along with Physical and Occupational Therapy can reduce the rate of disease progression and enhance the patient’s functionality. About 1 in 40,000 - 100,000 people are born with Ataxia Telangiectasia.

Symptoms of Ataxia Telangiectasia

The movement-related symptoms of Ataxia Telangiectasia usually appear in early childhood before the age of 5. The condition is progressive, which means that symptoms get worse over the years. Typical symptoms include:

• Difficulty with movement coordination (ataxia)

• Involuntary jerky movements (chorea)

• Trouble walking

• Poor balance

• Muscle twitches (myoclonus)

• Slurred speech

• Trouble moving eyes from side to side

• Small clusters of enlarged blood vessels on the skin and in the eyes (telangiectases)

• Sensitivity to radiation exposure, including X-rays

In addition, a weakened immune system means that patients are susceptible to conditions like lymphoma, leukemia, and chronic lung infections.

Causes of Ataxia Telangiectasia

Ataxia Telangiectasia occurs due to a mutation in the ATM gene. This gene has an important role in the normal development of the nervous, immune, and other body systems, as it provides instructions for manufacturing a protein that helps to control cell division. When the ATM gene is mutated, the protein cannot be manufactured at the normal rate, which means that cell division becomes unstable and cell death occurs.

There are two specific consequences to this mutation. The cells in the cerebellum (the part of the brain that controls movement) are particularly impacted by the loss of the protein, which contributes directly to the ataxia observed in Ataxia Telangiectasia patients. In addition, the gene mutations inhibit cells from repairing DNA damage, which can cause cancerous tumors to form if the damage accumulates beyond a point.

Ataxia Telangiectasia is passed on in an autosomal recessive pattern, so both copies of the ATM gene in the cells of the patient will feature the mutation. In carrier individuals, one copy of the ATM gene is mutated and the other is normal, so the individual will not display signs of the condition. They are, however, at higher risk of developing cancer or heart disease than non-carrier individuals.

Diagnosing Ataxia Telangiectasia

As a hereditary condition, Ataxia Telangiectasia can be diagnosed by testing for the ATM gene mutation. Patients who display symptoms should visit a doctor, who can recommend the appropriate genetic testing. An MRI or CT scan can also help identify brain and CNS abnormalities arising from the damage to the nervous system. Doctors can also test for alpha-fetoprotein (AFP), a protein that is present in large amounts in the blood of patients with Ataxia Telangiectasia.

Treatment for Ataxia Telangiectasia

Ataxia Telangiectasia has no cure and is a progressive illness, which means that the life expectancy is much shorter than normal. Treatment can help to manage the symptoms and improve the patient’s quality of life. A typical treatment program will include:

• Stem Cell Therapy to help address faulty cell division and growth

• Physical Therapy to target ataxia, balance problems, and muscle tremors

• Occupational Therapy to manage daily activities independently

• Speech Therapy to address slurring and other speech difficulties

• Assistive devices like walkers or wheelchairs for greater mobility

• Medication to treat cancers or infections that may occur from having a weakened immune system

Moreover, for parents worried about passing on a genetic condition to a child, there are genetic registries where they can get tested to see if they are a carrier for Ataxia Telangiectasia. With proper family planning, its occurrence can be prevented.

A diagnosis of Ataxia Telangiectasia can be tough to receive, but having a thorough understanding of how and why it presents can help devise a better approach to treating it. With appropriate care and medical intervention, the patient can enjoy a pain-free and effective life.

A highly regarded neurologist and stem cell specialist, Dr Na’eem Sadiq studied neurology and clinical neurophysiology in London before working with some of England’s and the Middle East’s most prestigious medical institutions. He completed his MBBS