Friedreich's Ataxia

Friedreich's ataxia is an autosomal recessive inherited disease which may cause progressive damage to the nervous system. This form of ataxia results from degeneration of nervous tissues in the spinal cord (the nerves get thinner). The sensory neurons are damaged thus affecting the muscle movement of the legs and arms. The condition does not affect the cognitive functions (reasoning and thinking ability).

The condition may set in childhood and may worsen with age thus completely crippling the movement of a person. The condition can incapacitate a person and confine him/her to a wheelchair. Friedreich's ataxia is the most common form of hereditary ataxia. This condition may reduce the life span of the person.

Friedreich's Ataxia Cause

Individuals develop this condition only if they have inherited two copies of the defective FXN gene, one from the father and one from the mother. If the person has only copy of the gene, he/she is called the carrier and may not develop the disease but may pass on the gene to his/her kids in the future. About 1 in 90 Americans of European ancestry is a potential carrier.

Friedreich's ataxia symptoms

Children with FA or Friedreich's ataxia tend to trip often and graze furniture and doorways. Muscle cramps and spasms are often experienced. Nystagmus occurs at an advanced stage along with loss of visual acuity.

• Weakness of muscles in the arms and legs
  
• Hearing impairment
  
• Loss of coordination
  
• Vision impairment
  
• Slurred speech
  
• Scoliosis (curvature of the spine)
  
• Deformity in the feet
  
• Shortness of breath
  
• Palpitations
  
• Diabetes in some people

Friedreich's ataxia diagnosis

Diagnosis includes physical examination by the physician and the following tests:

• ECG to understand the heart beat pattern.
  
• EMG to understand the electrical activity in the muscles.
  
• Echocardiogram for better understanding of the heart's performance.
  
• Blood tests to check the elevated glucose level in blood and to check vitamin E levels.
  
• MRI and CT scans to understand the brain and spine functioning.
  
• Nerve conduction studies to assess and measure the speed of nerve impulses

Friedreich's ataxia treatment

Though there is no proven treatment for Friedreich's ataxia, the associated symptoms can be treated. Physical therapy for orthopedic problems, cure for diabetes can be offered.

Ataxia

Ataxia is a condition that indicates lack of muscle control during voluntary movements like picking up objects or walking. In other words it refers to the loss of coordination of muscular movement. Ataxia can affect speech, eye movement, swallowing etc. Persistent ataxia in a person may be due to damage in the cerebellum, i.e. the part of the brain that controls muscle coordination. For example, gait ataxia refers to the condition of walking difficulties owing to a tumor in the brain stem. There are different types of ataxia:

• Friedreich's Ataxia
  
• Spinocerebellar Ataxia type 6
  
• A less common type is Ataxia Telangiectasia