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Friedreich Ataxia

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  • Not being able to move the arms and legs the way he or she wants to
  • Stumble or walk unsteadily
  • Have trouble feeling where the feet are on the floor
  • Have twitching or shaking legs
  • Eye problems " � These can happen if Friedreich ataxia affects the main nerve in the eye, called the "optic nerve. " �
  • Trouble swallowing
  • Loss of bladder control
  • Foot problems, such as very high arches and bent toes
  • Scoliosis " � This is a spine that curves sideways, like the letter "C. " � The spine also twists so one side of the back sticks up more than the other.

  • Friedreich ataxia usually causes a heart condition called "hypertrophic cardiomyopathy. " � This condition causes the muscle in the heart to get too bulky (figure 1). The heart has trouble pumping blood as well as it should. � �
    Some people with Friedreich ataxia get type 1 diabetes (sometimes called type 1 "diabetes mellitus " �). This is a disease that changes the way your body uses sugar. � �
    Is there a test for Friedreich ataxia? " � Yes and no. The doctor might be able to tell if you have it by learning about your symptoms and doing an exam. But because the symptoms can come on slowly, the doctor might not know right away if you have it. You should tell your doctor if anyone in your family has Friedreich ataxia. � �
    If the doctor thinks you might have Friedreich ataxia, he or she can order a blood test to check your genes. Most people with Friedreich ataxia have an abnormal gene, but not everyone does. � �
    How is Friedreich ataxia treated? " � There is no cure for Friedreich ataxia, but doctors can treat the symptoms. Treatments include: � �
    • Regular checkups with doctors who treat nerve and muscle problems, heart problems, and diabetes " � A person with Friedreich ataxia will usually see many different doctors for checkups and tests.
    • Physical and occupational therapy " � These can help with balance and movement problems and doing daily activities.
    • Devices that help with walking and daily activities " � These include a wheelchair, walker, or other devices.
    • Counseling " � Talking with a counselor can help a person with Friedreich ataxia cope with a disease that gets worse over time.
    • Genetic counseling " � This can help explain how the disease runs in families.

    All topics are updated as new evidence becomes available and our peer review process is complete. � �
    This topic retrieved from UpToDate on: Nov 04, 2014. � �
    Topic 83432 Version 2.0 � �
    Release: 22.8 - C22.206 � �
    � � 2014 UpToDate, Inc. All rights reserved. � �


    figure 1

    Heart with hypertrophic cardiomyopathy

    The heart on the left is normal. The heart on the right has hypertrophic cardiomyopathy. The condition causes the walls of the lower chambers of the heart (called the ventricles) to thicken.

    Graphic 50899 Version 5.0

    View Originalfigure 1

    Heart with hypertrophic cardiomyopathy

    The heart on the left is normal. The heart on the right has hypertrophic cardiomyopathy. The condition causes the walls of the lower chambers of the heart (called the ventricles) to thicken.

    Graphic 50899 Version 5.0

    View Original

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    This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care providers advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you.The use of UpToDate content is governed by the UpToDate Terms of Use. � �2014 UpToDate, Inc. All rights reserved. � �

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