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What is Dystonia?

What is Dystonia?

According to NINDS, the initial symptoms may be very mild and only noticeable after prolonged exertion, stress or fatigue. More debilitating symptoms may follow, becoming more widespread and painful. Progressive symptoms may include:

  • heavy blinking to the extent of functional blindness
  • twitching
  • twisting, turning, and pulling of the head known as torticollis
  • speech and swallowing difficulties
  • pain in the hand referred to as writer’s cramp
  • difficulty walking
  • spasticity

Causes of Dystonia

The onset of dystonia can be brought on in two different ways. Primary dystonia is believed to come from the abnormal function deep within the brain in a region called the basal ganglia. The basal ganglia control movement. When something goes wrong in the basal ganglia, dystonia may arise. Genetic research, according to NINDS, has revealed a possible gene mutation that causes some forms of dystonia. The secondary forms of dystonia can arise because of a number of different issues including:

  • birth injury
  • trauma
  • toxins
  • stroke
  • other disorders like Wilson’s disease
  • medications

While some forms of dystonia are known to be genetic, the role of environmental factors contributing or causing the disorder is being investigated. Some people who inherit a specific gene may develop a severe form of dystonia while others may demonstrate a very mild form of the condition. However, the specific nature of how the environment affects dystonia is unknown. NINDS says that dystonia can occur at any age depending on the form of the disorder. Some forms show up in early childhood, others in adolescence and middle and late age.

Gene Information : Dystonia Clinic website at: http://www.massgeneral.org/neurology/movement_disorders/dystonia/index.html


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