CMMC Neuroscience Center Dystonia

Basic Information

Dystonia is a general term for abnormal muscular tone. There are many clinical manifestations including muscular spasm, tightening of muscles, tremor, and abnormal movements, such as twitching, jumping, or writhing. There are many specific forms of dystonia. Common types include facial spasm, neck spasm (torticollis), writers cramp, and post-stroke spasm of a limb. There are also more complex, generalized forms of dystonia that are usually inherited. The underlying cause of dystonia is not well understood, but it is usually felt to originate within the brain itself, and is not a specific disease of the muscles or nerves. Treatment has in the past has been directed at affecting brain transmitter levels. More recently, injections of botulinum toxin have proved to be very effective.

Symptoms

  • Facial spasm (hemifacial spasm or myokymia) presents as twitching of the eye, cheek and mouth and can be very debilitating.
  • Spasmodic torticollis presents with twisting, turning, and pain in the neck muscles. Often the head will pull vigorously to one side.
  • Writers cramp, along with associated local cramping, is also a manifestation of an overuse syndrome.
  • Post-stroke dystonia presents usually in the arm, with severe muscular tightness and pain.


Treatment Available

  • Older forms of treatment include anticholinergic agents such as trihexyphenidyl and Cogentin.
  • Muscle relaxants such as Baclofen, Dantrolene, and tizanidine can all be helpful.
  • Some anti-seizure drugs such as Tegretol have been used and may be very effective.
  • The most effective treatment is botulinum toxin, which is delivered by a series of injections into the muscles.

Research

  • Exploring the underlying cause of dystonia.
  • New forms of botulinum toxin, with the goal of finding more lasting treatments or treatments delivered by non-injection route.
  • Medical treatments.
  • Possible use of deep-brain stimulators.

Website: Dystonia Foundation; also National Spasmodic Torticollis Association