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HOME >> Diseases >> Diseases Index >> Index F >> Friedreich's Ataxia
  Friedreich's Ataxia  

 

 



What is Friedreich's ataxia ?
Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease.

Generally, ataxia is a symptom of coordination problems such as clumsy or awkward movements and unsteadiness and occurs in many different diseases and conditions. The ataxia of Friedreich's ataxia results from the degeneration of nerve tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insular covering on some nerve cells that helps conduct nerve impulses).


Symptoms
Symptoms typically begin sometime between the ages of 5 to 15 years, but in Late Onset FA may occur in the 20s or 30s. Symptoms include any combination, but not necessarily all, of the following:

* Muscle weakness in the arms and legs
* Loss of coordination
* Vision impairment
* Hearing loss
* Slurred speech
* Curvature of the spine (scoliosis)
* High plantar arches ( pes cavus deformity of the foot)
* Diabetes
* Heart disorders (e.g., atrial fibrillation, and resultant tachycardia (fast heart rate) and hypertrophic cardiomyopathy )

It presents before 25 years of age with progressive staggering or stumbling gait and frequent falling. Lower extremities are more severely involved.

These symptoms are slow and progressive. Long-term observation shows that many patients reach a plateau in symptoms in the patient's early adulthood.

Treatment
A person suffering from Friedrich's Ataxia may require some surgical interventions (mainly for the spine and heart). Often a metal rod is inserted in the spine to help prevent or slow the progression of scoliosis. As progression of ataxia occurs, assistive devices such as a cane, walker, or wheelchair are required for mobility and independence. Other assistive technology, such as a standing frame, can help reduce the secondary complications of prolonged use of a wheelchair.

 

 


 

  People suffer from several different illnesses that affect the way the central nervous system works

  Degeneration of nerve tissue in the spinal cord

  Surgical interventions

 

 

 

 

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