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    Ataxia Telangiectasia

    अनुवाद: हिन्दी
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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.
    References: 1, 2

    Common Causes of Ataxia Telangiectasia

    The following are the most common causes of Ataxia Telangiectasia:
    • alterations in a gene ATM
    References: 3

    Risk Factors of Ataxia Telangiectasia

    The following factors may increase the likelihood of Ataxia Telangiectasia:
    • radiological procedures

    Prevention of Ataxia Telangiectasia

    Yes, it may be possible to prevent Ataxia Telangiectasia. Prevention may be possible by doing the following:
    • genetic counseling
    • increased cancer screenings
    References: 4

    Occurrence of Ataxia Telangiectasia

    Degree of Occurrence

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

    Common Age Group

    Ataxia Telangiectasia most commonly occurs in the following age group:
    • Can happen at any age

    Common Gender

    Ataxia Telangiectasia most commonly occurs in the following gender:
    • Not gender specific
    References: 1

    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
    • Increased cell death of white blood cells after exposure to X-rays
    • Absence of ATM protein in white blood cells
    References: 5

    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
    References: 6

    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
    References: 7

    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
    References: 7

    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 by applying Shirobasti and Shirodhara with with Dhanvantaram taila over the scalp and followed by massage with Dhanvantaram tailam and Bashpa sweda
    References: 8

    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
    References: 9

    Questions - Ataxia Telangiectasia

    Demographic Information - Ataxia Telangiectasia

    Following is the demographic information reported by website visitors for Ataxia Telangiectasia. Information below may include patient demographics as well as data for website visitors who might be researching on behalf of patients e.g. parents for small children. The data below may or may not be reflective of the complete patient population demographics for this medicine/health topic.
    Gender
    4 out of 5 users are male.
    Users Percentile
    Female1
    Male4
    Other0
    Participants: 5
    Age
    The most common user is 30-40 years old.
    Users Percentile
    < 210
    21-301
    30-402
    40-500
    50+1
    Participants: 4
    Marital Status
    No data has been collected for this survey
    Disease
    Users most commonly suffer from Insomnia.
    Users Percentile
    Insomnia1
    Chronic pain (e.g., arthritis, migraine, fibromyalgia, neuropathy)1
    Depression1
    Participants: 3
    Body Weight
    3 out of 6 users report that they are overweight.
    Users Percentile
    Overweight3
    Not overweight3
    Participants: 6
    Smoking Habit
    2 out of 4 users report that they do not smoke.
    Users Percentile
    Smoke2
    Do not smoke2
    Participants: 4
    Alcohol Consumption Frequency
    Users most commonly reported never consuming alcohol
    Users Percentile
    Never4
    One drink a day0
    Two drinks a day0
    More than two drinks a day0
    Once a week1
    Twice a week0
    Once a month0
    Participants: 5
    Well-being
    3 out of 5 users report that they had significant pain in the last 3 months.
    Users Percentile
    Significant pain in the last 3 months3
    No significant pain in the last 3 months2
    Participants: 5
    Profession
    Professor is the most common profession reported by users.
    Users Percentile
    Professor1
    Engineer, IT or Software1
    Student1
    Other1
    Participants: 3
    Routine Health Check-ups
    No data has been collected for this survey
    Missed Health Checkup Reason
    No data has been collected for this survey
    Medication
    No data has been collected for this survey
    Immunization
    No data has been collected for this survey
    Supplements
    No data has been collected for this survey
    Exercise Frequency
    Users most commonly exercise once a week.
    Users Percentile
    Once a week2
    Twice a week1
    Five times a week0
    Everyday1
    Never0
    Participants: 4
    Exercise Duration
    No data has been collected for this survey
    Like Exercising
    No data has been collected for this survey
    Difficulties in Exercising
    No data has been collected for this survey
    Fruits and Vegetables
    No data has been collected for this survey
    Healthy Food Choices
    No data has been collected for this survey
    Eating Out
    No data has been collected for this survey
    Fast Food Frequency
    No data has been collected for this survey
    Special Diet
    No data has been collected for this survey
    Housing Type
    No data has been collected for this survey
    Own Home
    No data has been collected for this survey
    Non-emergency Visits
    No data has been collected for this survey
    Medicine Source
    No data has been collected for this survey

    References

    1. Wikipedia Ataxia-telangiectasia - Accessed: February 20, 2017.
    2. Richard Gatti and Susan Perlman Ataxia-Telangiectasia - Accessed: February 20, 2017.
    3. National Ataxia Foundation Ataxia-Telangiectasia - Accessed: February 20, 2017.
    4. Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K Ataxia-Telangiectasia - Accessed: February 20, 2017.
    5. Wikipedia Ataxia-telangiectasia - Accessed: February 20, 2017.
    6. Ataxia-telangiectasia - Accessed: February 20, 2017.
    7. Mayo Clinic Ataxia - Accessed: February 20, 2017.
    8. Sriranjini SJ, Pal PK, Devidas KV, Ganpathy S. Improvement of balance in progressive degenerative cerebellar ataxias after Ayurvedic therapy: a preliminary report. Neurol India. 2009;57(2):166-71. - Accessed: February 20, 2017.
    9. Mayo Clinic Ataxia - Accessed: February 20, 2017.
    10. Source:

    Last updated date

    This page was last updated on 2/14/2018.
    This page provides information for Ataxia Telangiectasia in English.

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