Symptoms of Ataxia-Telangiectasia

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Ataxia-telangiectasia (A-T) is characterized by progressively (increasingly) impaired coordination (ataxia) and the appearance of tiny red blood vessels on certain body areas (telangiectasia). Telangiectasia happens because of permanent widening of groups of blood vessels.

A person with A-T can have difficulties with voluntary actions like walking and talking and experience involuntary movements like jerking and tremors. This article discusses the frequent and rare symptoms of A-T as well as its associated complications.

Red eyes can be a symptom of ataxia-telangiectasia


Peter Cade / Getty Images

Frequent Symptoms

Symptoms in people with A-T develop early in life (even in infancy) and become increasingly debilitating or limiting throughout adolescence. Symptoms of ataxia develop first, and then symptoms of telangiectasia develop some time afterward but typically by mid-childhood.

One 2018 review of previously reported literature suggests symptoms, in the beginning, show up as:

  • Cerebellar (coordination and muscular activity symptoms): 67 percent
  • Dystonia (involuntary muscle contractions): 18 percent
  • Choreoathetosis (involuntary twitching or writhing): 10 percent
  • Dysarthria (slurred speech): 7 percent
  • Tremor (shakes): 4 percent

Ataxia-Specific Symptoms 

The symptoms related to ataxia can include:

  • Impaired coordination (muscle weakening)
  • Abnormal swaying of the head and trunk
  • Inability to walk (ambulation)
  • Difficulty speaking (dysarthria)
  • Difficulty swallowing or breathing
  • Drooling or choking
  • Tics
  • Slurred speech (drunk-like)
  • Eye movement dysregulation or difficulty in controlling eye movements (oculomotor apraxia)
  • Rapid blinking and head turning
  • Involuntary, rapid, rhythmic shaking motions (oscillations) of the eyes when trying to focus
  • Radiation sensitivity (such as to medical X-rays)
  • Stooped posture
  • Irregular, rapid, jerky movements (may occur in association with relatively slow, writhing motions [choreoathetosis])
  • Occasional nosebleeds
  • Adenoids, tonsils, and peripheral lymph nodes that develop abnormally or fail to develop

Telangiectasia-Specific Symptoms 

Blood vessels start appearing on sun-exposed areas of the skin. These can include the bridge of the nose, the ears, certain regions of the arms and legs, and the mucous membranes of the eyes (conjunctiva). This shows up as permanent bloodshot eyes typically between 3 and 6 years of age.

Signs of telangiectasia may show up earlier. Telangiectasia can also spread to the eyelids, roof of the mouth, and possibly other areas of the body.

Rare Symptoms

Rare symptoms are those that can happen in people with A-T but are less common.

They include:

  • Bladder and/or bowel incontinence (loss of muscle control)
  • Periods of vomiting (typically in the morning)
  • Type 2 diabetes mellitus (later in disease)
  • Reproductive abnormalities (delayed puberty or early menopause)

Complications

A-T is a condition with many complications.

Immune System Dysfunction

People with A-T are prone to complications related to having an impaired or compromised immune system. These complications include an increased likelihood of developing respiratory-specific infections such as the following:

  • Chronic sinus infection
  • Chronic lung infection
  • Recurring pneumonia
  • Chronic bronchitis (inflammation of the bronchial tubes inside the lungs)
  • Pulmonary disease
  • Acute ear infections (acute otitis media)

Hormone Abnormalities

Growth hormone deficiency in people with A-T results in slower than average development (known as growth retardation).

Stunted or partial sexual development in both males and females can occur because of abnormalities of hormone-producing (endocrine) glands associated with A-T.

Premature Aging

According to the National Organization for Rare Disorders, around 90 percent of people with A-T experience premature aging. Skin and hair complications can occur as a result.

With the increase in lifespan for people living with A-T, researchers say the premature aging component of this disease is gaining greater awareness.

Symptoms of premature aging include developing the following during adolescence:

  • Gray hair
  • Dry, thinning skin
  • Wrinkles
  • Skin discolorations

Cancer


Estimates are that around 40 percent of people with A-T develop cancer at some point (usually beginning by early adulthood). The most commonly associated cancers are cancers of the lymphatic system (lymphomas) or cancer of the blood (leukemia).

Some people with A-T may be more prone to cancer than others. People with A-T who are also carriers of the ATM gene, relatives of people with A-T, and people exposed to X-rays have increased risk.

Diabetes

Diabetes mellitus or type 2 diabetes can develop in people with A-T. This is predominantly due to the body not responding properly to insulin. Insulin regulates the metabolism of carbohydrates.

A 2020 retrospective analysis using 39 A-T patient profiles from the Frankfurt A-T cohort performed between August 2002 and 2018 found nearly 18 percent had diabetes. This suggests the connection between the two may be more common than previously considered.

The same researchers also reviewed 31 additional patient cases from 2018 to 2019. They concluded diabetes is a common finding in older A-T patients and often starts in puberty (suggesting the need for early diabetes screening).

Symptoms of diabetes to watch for if you have A-T include:

  • Abnormally increased thirst and urination (polydipsia and polyuria)
  • Unexplained weight loss
  • Unusual or new lack of appetite
  • Fatigue

When to See a Doctor

If you notice any symptoms of ataxia-telangiectasia in your child or yourself, consider calling your doctor to make an appointment for a check-up. If you know you or your partner carry the genes for A-T or have the condition in the family, discuss with your doctor or pediatrician what symptoms to look for and report in your child.

Your doctor can help uncover the cause of your symptoms and if they're related to A-T. They can then suggest the best, next steps for treatment.

After diagnosis with A-T, a person should get more frequent screenings for cancer and have their immune system checked regularly.

Summary

Ataxia-telangiectasia is a rare condition that has symptoms related to movement and blood vessel formation. The symptoms related to movement often show up in infancy or early childhood and include tremor, involuntary movements, and difficulty or inability to walk. Telangiectasia is the appearance of blood vessels on sun-exposed areas.

Complications of A-T include immune system dysfunction (with recurring or chronic infections), hormone abnormalities, premature aging, and increased risk of cancer.

A Word From Verywell


After a diagnosis of A-T, work with a healthcare team to make the symptoms more manageable. If you or a loved one is concerned about daily care and future planning for A-T symptoms and disease progression, consider sharing these feelings with a doctor or your specialist. They will help guide you to local resources and support systems that can make everyday coping easier.



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8 Sources
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