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Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include

  • Difficulty walking
  • Muscle weakness
  • Speech problems
  • Involuntary eye movements
  • Scoliosis (curving of the spine to one side)
  • Heart palpitations, from the heart disease which can happen along with Friedreich's ataxia

People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy.

NIH: National Institute of Neurological Disorders and Stroke

Symptoms of Friedreich's Ataxia

The following features are indicative of Friedreich's Ataxia:
  • difficulty in walking
  • loss of sensation
  • loss of tendon reflexes
  • muscle weakness
  • speech problems
  • involuntary eye movements
  • curving of the spine to one side
It is possible that Friedreich's Ataxia shows no physical symptoms and still be present in a patient.

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Common Causes of Friedreich's Ataxia

The following are the most common causes of Friedreich's Ataxia:
  • mutations in the FXN gene

Risk Factors for Friedreich's Ataxia

The following factors may increase the likelihood of Friedreich's Ataxia:
  • genetic factor

Prevention of Friedreich's Ataxia

No, it is not possible to prevent Friedreich's Ataxia.
  • mutations in FXN gene

Occurrence of Friedreich's Ataxia

Number of Cases

The following are the number of Friedreich's Ataxia cases seen each year worldwide:
  • Very rare between 1K - 10K cases

Common Age Group

Friedreich's Ataxia can occur at any age.

Common Gender

Friedreich's Ataxia can occur in any gender.

Lab Tests and Procedures for Diagnosis of Friedreich's Ataxia

The following lab tests and procedures are used to detect Friedreich's Ataxia:
  • Electromyogram: To measure the electrical activity of muscle cells
  • Electrocardiogram: To see the graphic presentation of the electrical activity or beat pattern of the heart
  • Echocardiogram: To record the position and motion of the heart muscle
  • Magnetic resonance imaging: To see the brain and spinal cord images

Doctor for Diagnosis of Friedreich's Ataxia

Patients should visit the following specialists if they have symptoms of Friedreich's Ataxia:
  • Pediatric neurologists
  • Cardiologists
  • Medical geneticists
  • Biochemical geneticists
  • Endocrinologists

Complications of Friedreich's Ataxia if untreated

Yes, Friedreich's Ataxia causes complications if it is not treated. Below is the list of complications and problems that may arise if Friedreich's Ataxia is left untreated:
  • cardiomyopathy

Procedures for Treatment of Friedreich's Ataxia

The following procedures are used to treat Friedreich's Ataxia:
  • Speech therapy: Improve speech outcomes
  • Surgical intervention: Prevent or slow the progression of scoliosis

Alternative Medicine for Treatment of Friedreich's Ataxia

The following alternate medicine and therapies are known to help in the treatment or management of Friedreich's Ataxia:
  • Quinone therapy: Decrease of disease progression

Patient Support for Treatment of Friedreich's Ataxia

The following actions may help Friedreich's Ataxia patients:
  • Support and information for families: Communicate with others affected by the same condition helps in dealing with disease

Time for Treatment of Friedreich's Ataxia

While time-period of treatment for each patient may vary, below is the typical time-period for Friedreich's Ataxia to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Friedreich's Ataxia.
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