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Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia type 2


Other Names for this Disease
  • Olivopontocerebellar atrophy 2
  • Olivopontocerebellar atrophy Holguin type
  • SCA 2
  • SDSEM
  • Spinocerebellar ataxia 2
More Names
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Your Question

Is there a cure for spinocerebellar ataxia type 2? How can I learn more about clinical trials involving new treatments for spinocerebellar ataxia type 2?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is spinocerebellar ataxia type 2?

Spinocerebellar ataxia type 2 is a progressive disorder that causes uncoordinated movement (ataxia), slow eye movement, and sometimes dementia (memory loss). It is caused by a mutation in the ATXN2 gene. It usually affects people in adulthood, but can develop in childhood or adolescence. Each child of a person with spinocerebellar ataxia 2 has a 50% (1 in 2) chance of inheriting the condition.[1]
Last updated: 1/31/2014

What are the symptoms of spinocerebellar ataxia type 2?

Early symptoms of spinocerebellar ataxia may include uncoordinated movement (ataxia) and leg cramps. Other symptoms may include tremor, decreased muscle tone, poor tendon reflexes, abnormal eye movements, dementia, dystonia and/or chorea, muscle twitches, nerve irritation and swelling (polyneuropathy), leg weakness, difficulty swallowing, bladder dysfunction, and parkinsonism.[2]
Last updated: 1/31/2014

Is there a cure for spinocerebellar ataxia type 2?

At this time there is not a cure for spinocerebellar ataxia type 2.
Last updated: 1/31/2014

How might spinocerebellar ataxia type 2 be treated?

Treatment of spinocerebellar ataxia type 2 is supportive, and aims to help the person maintain their independence and avoid injury. It is recommended that people with spinocerebellar ataxia 2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and avoid alcohol and other medications that affect cerebellar function. Adaptive equipment may include canes or other devices to help with walking and mobility. People with spinocerebellar ataxia 2 may develop difficulty speaking and may need to use computerized devices or writing pads to help with communication. Levodopa may be prescribed to help with some of the movement problems (e.g., rigidity and tremor), and magnesium may improve muscle cramping.[1][3][2]
Last updated: 1/31/2014

How can I learn more about clinical trials investigating new therapies for spinocerebellar ataxia type 2?

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, clinical trials are identified as enrolling individuals with spinocerebellar ataxia type 2. To view results from a sample search, click here. Click on the study titles to learn more. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if you are eligible for any clinical trials.

Patient Recruitment and Public Liaison Office
NIH Clinical Center Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site: http://clinicalcenter.nih.gov/  

If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
http://www.nlm.nih.gov/medlineplus/tutorials/cancerclinicaltrials/htm/lesson.htm

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8

Last updated: 1/31/2014

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