Dystonia is a disorder that causes repetitive involuntary muscle movements
Q: My cousin was diagnosed with dystonia, what is this?
A: Dystonia is a disorder of involuntary muscle contractions that may cause repetitive and/or abnormal movement or postures, for example periodic or cyclical muscle movements, twisting motions, having a muscle(s) "stuck" in a contracted state, etc. These movements are usually slow and sustained. The affected muscles are not typically weaker than normal.
The underlying pathophysiology of dystonia is not well understood, but it is thought to be due to some issue in the brain, possible due to changes in chemical brain signals and/or receptors, and/or possibly due to some anatomical changes. However, there does not seem to be brain cell degeneration associated with this condition, so it is thought to be more of a functional issue.
Dystonia affects over 15 per 100,000 Americans. There are many possible causes of dystonia. Dystonias are classified based on several factors.
Age of onset: As an infant, child, juvenile or adult. This may be a clue to the underlying cause. For example, onset in infancy would increase suspicion of a genetic cause.
Muscle group(s) affected: One or both sides of the body affected; a single body part (for example the neck, eyelids, jaw, voice box, upper extremity, other) or multiple associated body parts; or generalized whole body movements.
Causative etiology, including if it is: a primary condition, such as it being an inherited condition or an idiopathic condition (no underlying cause is identified); or a secondary condition, such as being caused by a medication (for example a seizure medication, a medication for a psychological illness, others), other disease (such as Parkinson’s disease, Huntington’s disease, Wilson’s disease, any others), brain injury or other brain conditions (for example traumatic injuries, strokes, brain cancers, changes in the brain after certain brain infections, others), toxins (including certain drugs of abuse, for example as a consequence of cocaine abuse) or from other secondary causes.
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Dystonia is diagnosed based on the history and physical examination; there are no specific tests for it. However, other tests (possibly blood tests, urine tests and/or imaging tests) may be done to identify possible underlying diseases (as noted above) that could be causing or contributing to the patient’s dystonia.
At this time there is no cure for dystonia, so treatments are aimed at controlling symptoms. These treatments may include medications, surgical procedures (for example deep brain stimulation or others, typically considered for patients who have severe symptoms that do not respond to other treatments) and/or physical/rehab therapy.
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Patients who begin experiencing any abnormal muscle movements or issues should discuss this with their health care provider. The severity of symptoms (for example, are they interfering with the patient’s ability to carry out their normal daily activities?) will be a key point of the discussion. There are many possible things that can cause abnormal muscle movements, so a complete history and physical exam is indicated to better identify what may be going on. This will also include a review of all the patient’s medications, as well as an honest (hopefully) discussion of any drugs, toxins and/or other exposures the patient may have. Close follow up to see if the symptoms change, will be needed.
Jeff Hersh, Ph.D., M.D., can be reached at DrHersh@juno.com.
This article originally appeared on MetroWest Daily News: dystonia causes involuntary muscle movement and there's no cure
