How Ataxia-Telangiectasia Is Treated

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Treatment for ataxia-telangiectasia (A-T) is geared toward preventing and managing symptoms. This complex genetic neurodegenerative disease affects voluntary movement, immune function, and cancer risk, and causes dilated blood vessels.

A-T requires a team approach, typically including a primary care professional, immunologist (specialist in the immune system), pulmonologist (lung specialist), and neurologist (specialist in the brain and nervous system). Your current symptoms, medical history, and overall health condition will be considered in your treatment plan.

Child in wheelchair with nurse or therapist

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Common treatments include fighting respiratory infections and controlling the spread of and severity of dilated blood vessels.

This article discusses treatment options for people with ataxia-telangiectasia.

Home Remedies and Lifestyle

A person with A-T should stay out of the sun, as direct sunlight causes worsening of the widened and dilated blood vessels in exposed areas (telangiectasia).

Nutritional therapies are being looked at for their potential in reducing symptoms associated with A-T including nutritional deficiencies and immune system dysfunction.

A particular nutritional supplement, myo-inositol (also called inositol), has been looked at with respect to its impact on blood sugar management and insulin sensitivity. Inositol is currently used in treating metabolic disorders like diabetes.

Diabetes is a common co-occurring disorder in people with A-T. Inositol may be useful for reestablishing balance in people with A-T who have type 2 diabetes or insulin-resistant diabetes.

One six-month study in 80 postmenopausal women with metabolic syndrome found that four grams per day of inositol improved insulin sensitivity, blood pressure, and cholesterol levels more than a placebo.

A 2020 retrospective analysis using 39 A-T patient profiles from the Frankfurt A-T cohort performed between August 2002 and 2018, along with 31 additional patient cases from 2018 to 2019, found nearly 18% of people with A-T also had diabetes.

Postural Drainage

Respiratory infections can make it even more challenging to clear the airways. Postural drainage is an at-home remedy that can help.

Postural drainage is when you put your head at a lower level than the rest of our body so your bronchial tubes and lungs can drain. You can do this by lying on your back, bending your knees, placing a pillow under your knees, and resting there until you feel relief.

Vitamin E Therapy

Vitamin E is an antioxidant that’s said to protect cells against free radical damage caused by things like environmental toxins, smoke, and pollution. In A-T, a person’s cells are under increased oxidative stress. For people with A-T, vitamin E may be used to provide temporary relief of symptoms.

This should only be done under the advice and supervision of a physician to avoid toxicity. Vitamin E dietary supplements and other antioxidants might interact with chemotherapy and radiation therapy.

Vitamin E interacts with many medications and should be discussed with your doctor prior to taking. No clinical trials and not enough sufficient evidence are available to support using vitamin E therapy as A-T treatment.

Removing Thin Liquids

If a person with A-T is having problems with aspiration (when foods and liquids go down the trachea into the lungs), they may find improvement from removing thin liquids from their diet. In some cases of A-T, it will be safest to access nutrients through a feeding or gastronomy tube.

Prescriptions

Prescriptions for A-T vary widely depending on the symptoms being treated. Prescriptions for A-T are used off-label, meaning there is no approved medication for A-T treatment. 

Off-label prescriptions include certain anti-Parkinson’s and anti-epileptic drugs. Research on their usefulness in treating symptoms is limited due to small sample sizes.

Amantadine sulfate is one example. It may help in the treatment of motor symptoms (movement issues) in A-T. One study on 17 children treated with amantadine sulfate found that over 76% of patients had at least 20% symptom improvement after eight weeks.

Other examples include:

  • Baclofen for ataxia-related muscle spasms or cramps
  • Clonazepam or Neurontin (gabapentin) and Lyrica (pregabalin) for dizziness and vertigo, tremors, and rest tremors
  • Prozac (fluoxetine) for speech and swallowing, and for uncontrolled laughing and crying

Metformin

Metformin lowers blood sugar levels (acting as an anti-hyperglycemic agent). It’s recommended as first-line therapy for type 2 diabetes, which can be a complication associated with living with A-T. 

Only a few clinical trials with around 10 people with A-T diagnosis have been done to determine the usefulness of certain medications like metformin. The results have yet to be released on all studies.

Valium

Valium (diazepam) can be used to help symptoms of slurred speech and involuntary muscle contractions.

Antibiotics

Antibiotics can be used to treat the respiratory infections common in persons with A-T.

However, a 2020 article published in the British Medical Journal suggests “choosing wisely” when it comes to antibiotics (due to antibiotic overuse). A clinician-led campaign in 20 countries, including the United States, argues against using antibiotics for upper respiratory infections that are likely viral in origin.

Treating Respiratory Infections

In addition to antibiotics, respiratory infections can be helped by inhaled corticosteroids to reduce airway inflammation. Supplemental oxygen therapy may also be advised.

Your doctor may decide gamma globulin (antibody) injections are more suitable for treating your respiratory infection. It all depends on what’s causing the infection and what is likely to be most effective.

Having a regular respiratory care program in place that includes chest physical therapy or the use of a therapy vest is advised before serious and irreversible lung problems develop.

Immune-Heightening Medications

Researchers are working in clinical trials to investigate how the following immune-heightening medications may help treat immune-related problems associated with A-T. To date, none have been approved in the treatment of A-T or A-T-specific symptoms.

Examples include:

  • Levamisole: This experimental cancer drug was pulled from the U.S. market in 2000 due to adverse side effects.
  • Interleukin-2: This drug regulates white blood cell activity involved in immune response.
  • Intron (interferon): This drug interferes with your immune system environment in such a way that it signals antiviral activity. It is FDA approved for treating certain cancers and hepatitis B.
  • Chemotherapeutic agents (e.g., cyclophosphamide): These suppress your immune system.
  • Antilirium (physostigmine): This drug works on the nervous system to alter signals between nerves and muscles.

Warning

Interferon has many serious side effects, including some that may cause death or worsen certain serious conditions that you may already have.

Tell your healthcare professional right away if you have any of the following symptoms while taking Intron A: heart problems, stroke or stroke symptoms, mental health problems including suicide, new or worsening autoimmune disease, and infections.

If symptoms get worse, or become severe and continue, your healthcare provider may tell you to stop taking Intron A permanently. In many, but not all people, these symptoms go away after they stop taking Intron A.

Surgeries and Specialist-Driven Procedures

A-T can cause difficulties in drinking, chewing, and swallowing, and tremors can make holding utensils and eating particularly challenging. Treatments for such problems should be advised by a speech-language pathologist.

Dietitians can also help with specific changes like increasing calories and discussing the benefits and drawbacks of certain food supplements.

Gastronomy Tube

To prevent nutritional deficiencies and aspiration, a gastronomy tube (G-tube) can be inserted through the abdomen skin and into the stomach. With early placement, nutritional supplementation allows growth, improves stamina, and decreases the risk of lung damage from aspiration.

G-tubes are recommended in the following situations:

  • A child cannot eat enough to grow.
  • A person of any age cannot eat enough to maintain weight.
  • Aspiration is problematic.
  • Mealtimes are stressful or too long, interfering with other activities.

Treatments to Avoid

Neither bone marrow transplantation nor injection of neural stem cells into the brain is considered safe at this time.

Physical and Occupational Therapy 

Physical therapy can be used to help with muscle strength and prevent tightening and shortening in the limbs. Physical therapy, as well as speech therapy and occupational therapy, can be useful in maintaining certain functions, but cannot prevent their eventual progressive decline.

Neurological deterioration eventually leads to needing to use a wheelchair and other adaptive devices. Children and teens may need adaptive equipment to attend school.

Eye movement impairment can make it difficult to read, and using a computer may be difficult with impaired eye and hand coordination.

Genetic Counseling

Genetic counseling has been said to potentially be of benefit to people with A-T and their families. It can provide education for the patient and family members regarding the possibility and potential consequences of genetic testing for A-T relatives, including siblings. Genetic counseling may also be useful for families seeking support in interpreting results.

Summary

Ataxia-telangiectasia is a progressive genetic disorder that impairs movement and immune function, and causes dilated blood vessels. Treatment is aimed at preventing respiratory infections, supporting immune function, and treating diabetes if it develops. Supportive care often includes physical therapy, speech therapy, and occupational therapy as the condition progresses.

A Word From Verywell

If you’re wondering about A-T treatment options for a family member or loved one, talk to your doctor. Clinical research on medications and other treatment options continues as the medical community is currently waiting on results from clinical trials that could change the way treatment for A-T is viewed.

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