Friedreich ataxia

Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system and movement problems. Neurological symptoms include awkward, unsteady movements, impaired sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not ...1

... More on Friedreich ataxia »

Symptoms of Friedreich ataxia

In Friedreich’s ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory ...2

... More Symptoms of Friedreich ataxia »

Causes of Friedreich ataxia

Cause: Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment ...3

... More Causes of Friedreich ataxia »

Causes List for Friedreich ataxia

Some possible causes of Friedreich ataxia or similar disorders may include:4

... Full Causes List for Friedreich ataxia »

Types of Friedreich ataxia

Some types of this condition may include:5 Types of Friedreich ataxia:

... More Types of Friedreich ataxia »

Diagnosis of Friedreich ataxia

How is Friedreich's ataxia diagnosed? A diagnosis of Friedreich's ataxia requires a careful clinical examination, which includes a medical history and a thorough physical exam, in particular looking for balance difficulty, loss of proprioception (joint sensation), absence of reflexes, and ...6

... More on Diagnosis of Friedreich ataxia »

Genetics of Friedreich ataxia

Friedreich’s ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. ...Source: NINDS (NIH)7 ...

... More on Genetics of Friedreich ataxia »

Treatments: Friedreich ataxia

Can Friedreich's ataxia be cured or treated? As with many degenerative diseases of the nervous system, there is currently no cure or effective treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help ...8

... More Treatment Information for Friedreich ataxia »

Research for Friedreich ataxia

What research is being done? Within the Federal government the National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), has primary responsibility for sponsoring research on neurological disorders. As part of this ...9

... More on Research for Friedreich ataxia »

Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)10 ...

... More General Information on Friedreich ataxia »

   •   •   •

References

  1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ friedreichs_ataxia/ friedreichs_ataxia.htm
  2. Source: NINDS (NIH): ninds.nih.gov/ disorders/ friedreichs_ataxia/ detail_friedreichs_ataxia.htm
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6468/ friedreich-ataxia
  4. Source: Algorithmically Generated List
  5. Source: NCI Thesaurus
  6. Source: NINDS (NIH): ninds.nih.gov/ disorders/ friedreichs_ataxia/ detail_friedreichs_ataxia.htm
  7. ibid.
  8. ibid.
  9. ibid.
  10. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ friedreich-ataxia

   •   •   •

Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.