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Health & Medicine
Pradeep Kumar

23/04/21 09:25 AM IST

Source: The Hindu

Friedrich’s ataxia

In news

The article described how the researchers had identified a way to tag the defective part of the gene and bind it so that frataxin can be produced normally

About the disease
  • Friedrich’s ataxia, a disease that causes damage to the nervous system as well as speech impairment and movement problems.
  • Friedrich’s ataxia starts during childhood and manifests later as impaired muscular coordination that worsens with age. It is caused by an inherited aberrant gene.
  • In Friedreich ataxia nerve fibers in the spinal cord and peripheral nerves degenerate, becoming thinner. 
  • Peripheral nerves carry information from the brain to the body and from the body back to the brain, such as a message that the feet are cold or a signal to the muscles to generate movement.
  •  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 functions. 
  • The disorder also causes problems in the heart (in as many as one-third of affected individuals) and spine, and some people with the condition will also develop diabetes. 
  • The disorder does not affect thinking and reasoning abilities (cognitive functions).
Signs and symptoms?
  • Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood. 
  • Approximately 15 percent of people with Friedreich ataxia have onset after age 25. 
  • The first neurological symptom to appear is usually difficulty walking and poor balance (gait ataxia, often described as appearing dizzy or even drunk).
  • Another early sign of the disease is slowness and slurring of speech (dysarthria).
  • With time speech becomes hesitant and jerky (often referred to as “scanning of speech”).
  • The difficulty coordinating movement (ataxia) can affect all of the muscles.  
  • It gradually worsens and slowly spreads to the arms and the trunk (torso). 
Source: The Hindu

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