FRIEDREICHS ATAXIA SYNDROME

FRIEDREICH’S ATAXIA SYNDROME

Friedreich’s ataxia syndrome is an unusual inherited illness that creates problems in walking, a loss of movement in the legs and arms, and a weakened speech. It is also defined as spinocerebellar degeneration which generates harm to the area of your spinal cord and brain that can influence your heart too. 

When you say ataxia, it signifies deficiency of order. There are several kinds of ataxia that have several causes. And one of these is called “Friedreich’s ataxia”. This condition gives rise to the shaking movements and basically gets worse over time.

What is the cause of Friedreich’s ataxia syndrome?

The main cause of Friedreich’s ataxia syndrome is alteration and weakness in the gene mentioned as FXN, which takes in the creation of a protein known as frataxin. FAS is a genetic condition, in which individuals acquire two malfunctioning duplicates of the gene, one from every parent, to develop the disease. Both females and males may be affected with this syndrome.

SYMPTOMS

The symptoms of Friedreich’s ataxia syndrome commonly begin when the individual is within five to 15 years old. These are the early signs of the syndrome:

  • Issues in speaking
  • Balance issues
  • Difficulty in walking

As the time goes by, the symptoms of the syndrome may spread to the associated muscles, frequently causing instability of the muscles and deflection of the spine.

Other linked signs of the syndrome includes the following:

  • Problems in swallowing
  • Loss of regular reflexes
  • Eyesight changes
  • Loss of movement in legs and arms
  • Heart issues

The progress of these symptoms gets worse over a period of time which depends on every affected individual.

DIAGNOSIS

To diagnose Friedreich’s ataxia, you’ll undergo genetic testing to identify the real cause of the problems. Other procedures which are used to diagnose this syndrome are the following:

  • Electromyogram 
  • CT Scan
  • MRI

These tests are used to determine the condition of muscles and nerves affected. It can also help rule out the primary cause of your symptoms.

TREATMENT

Although there is no present treatment for Friedreich’s ataxia, there are other supported treatments that improve the way of life of an individual and control the symptoms. For instance, heart issues can be cured with proper medications, and orthopedic problems including deformation can be treated with surgery. Other supporting treatments are speech and physical therapy to assist people in their conditions.

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