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Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include

  • Ataxia - trouble coordinating movements
  • Poor balance
  • Slurred speech
  • Tiny, red spider veins, called telangiectasias, on the skin and eyes
  • Lung infections
  • Delayed physical and sexual development

People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence.

A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins.

NIH: National Institute of Neurological Disorders and Stroke

Symptoms of Ataxia Telangiectasia

The following features are indicative of Ataxia Telangiectasia:
  • difficulty with control of movement
  • involuntary movements
  • slowed rate of growth
  • drooling particularly in young children
  • slurred, slow or distorted speech sounds
  • premature changes in hair and skin
It is possible that Ataxia Telangiectasia shows no physical symptoms and still be present in a patient.

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Common Causes of Ataxia Telangiectasia

The following are the most common causes of Ataxia Telangiectasia:
  • alterations in a gene ataxia telangiectasia mutated (ATM)

Prevention of Ataxia Telangiectasia

Yes, it may be possible to prevent Ataxia Telangiectasia. Prevention may be possible by doing the following:
  • genetic counseling of expecting parents
  • regular cancer screenings

Occurrence of Ataxia Telangiectasia

Number of Cases

The following are the number of Ataxia Telangiectasia cases seen each year worldwide:
  • Extremely rare less than 1000 cases

Common Age Group

Ataxia Telangiectasia can occur at any age.

Common Gender

Ataxia Telangiectasia can occur in any gender.

Lab Tests and Procedures for Diagnosis of Ataxia Telangiectasia

The following lab tests and procedures are used to detect Ataxia Telangiectasia:
  • Lab tests: Elevated alpha-fetoprotein levels
  • Absence of ATM protein in white blood cells

Doctor for Diagnosis of Ataxia Telangiectasia

Patients should visit the following specialists if they have symptoms of Ataxia Telangiectasia:
  • Neurologist

Complications of Ataxia Telangiectasia if untreated

Yes, Ataxia Telangiectasia causes complications if it is not treated. Below is the list of complications and problems that may arise if Ataxia Telangiectasia is left untreated:
  • prone to infection
  • increased likelihood of developing cancer at an early age
  • hypersensitivity to the type of radiation found in X-rays

Procedures for Treatment of Ataxia Telangiectasia

The following procedures are used to treat Ataxia Telangiectasia:
  • Physical therapy: Help in coordination and enhancing mobility
  • Occupational therapy: Helps you with daily living tasks
  • Speech therapy: Improve speech and aid swallowing

Self-care for Ataxia Telangiectasia

The following self-care actions or lifestyle changes may help in the treatment or management of Ataxia Telangiectasia:
  • Use hiking sticks or walkers for walking
  • Use modified utensils for eating
  • Use communication aids for speaking

Alternative Medicine for Treatment of Ataxia Telangiectasia

The following alternate medicine and therapies are known to help in the treatment or management of Ataxia Telangiectasia:
  • Ayurvedic therapy: Improves the balance in degenerative cerebellar ataxias by applying Shirobasti and Shirodhara with Dhanvantaram taila over the scalp and followed by massage with Dhanvantaram tailam and Bashpa sweda

Patient Support for Treatment of Ataxia Telangiectasia

The following actions may help Ataxia Telangiectasia patients:
  • Join support group: Join ataxia supporting groups that encourage you

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Ataxia Telangiectasia.

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