Dystonia is a movement disorder in which involuntary muscle contractions cause a person to twist, turn, or remain in unusual positions. These spasms are often patterned and repetitive. The condition may affect one part of the body, adjacent regions, or the entire body.

1. What is Dystonia?

Dystonia can be categorized in many different ways, usually by clinical characteristics or underlying cause. A typical categorization includes the extent of involvement:

  • Focal Dystonia.  Only one part of the body is affected
  • Segmental dystonia. Two or more adjacent parts of the body are affected.
  • General dystonia. The whole body may be affected by mild or severe muscle spasms.

Other types include multifocal or hemidystonia. No matter the subtype or cause, dystonia can significantly interfere with a person’s daily life. They may no longer be able to complete simple tasks like getting dressed or putting on shoes.

Dystonia may begin in one area and spread over time. Adult-onset (age > 30 years) dystonia rarely becomes generalized, unlike early-onset.



2. What are the symptoms of dystonia?

Dystonia can have diverse symptoms depending on the location, age, and cause.  Regardless, they are all different types of unplanned muscle contractions. Examples of such muscle contractions include:

  • Cramping in the foot
  • Involuntary pulling of the neck
  • Uncontrollable blinking
  • Difficulty speaking
  • Recurrent contraction of arms or legs

In people with dystonia, symptoms often worsen during times of stress or fatigue. They also tend to worsen with activity.



3. What causes dystonia?

Dystonia is classified by its cause:

  • Primary dystonia—there is no other underlying condition, and no cause has been identified
  • Secondary dystonia—inherited through genetics or a symptom of a neurological disorder or as a result of an injury.

While the cause of primary dystonia often goes unidentified, experts believe it may have to do with a problem in the part of the brain called the basal ganglia. It may involve other brain regions as well.

A number of conditions including can cause secondary dystonia

  • Traumatic brain injury
  • Parkinson’s disease
  • Wilson’s disease
  • Huntington’s disease
  • Cerebral palsy
  • Stroke
  • Brain tumor
  • Oxygen deprivation or carbon monoxide poisoning
  • Infections such as encephalitis, tuberculosis (TB), or HIV
  • Reaction to a drug, often after long-term use of specific drugs
  • Heavy metal poisoning



4. How is dystonia diagnosed?

This condition can often be diagnosed based on physical symptoms. The physical examination is augmented by a thorough history, and further investigation helps determine if there is a cause for their dystonia.   Your provider may then order the following tests:

  • Blood and urine tests. To determine if toxins or an infection cause dystonia.
  • MRI or CT scan. Imaging tests of the brain will show abnormalities of the brain such as a tumor, structural lesions, or signs of a stroke.
  • Electromyography (EMG). This test will measure electrical activity in the muscles.
  • Genetic tests. To check for mutated genes and rule out other disorders, like Huntington’s disease.

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5. How is dystonia treated?

For some medication-induced dystonias, treatment is effective at eliminating symptoms. With the avoidance of those medications in the future, dystonia can be avoided.

For most other types of dystonia, there are unfortunately no cures. With prescription medications, however, symptoms can be managed.

A variety of medications are used to help treat symptoms of dystonia. These include:

  • Botulinum toxin (Botox). This toxin is injected into the contracting muscle(s) to stop unplanned contractions. The treatment must be repeated every three to four months.
  • Levodopa. Levodopa raises levels of dopamine and, in an indirect pathway, helps decrease involuntary muscle contractions.
  • Trihexyphenidyl, benztropine. Medications also used to treat Parkinson’s disease; they are anticholinergic drugs that help inhibit muscle movement.
  • Tetrabenazine. This drug blocks dopamine.
  • Diazepam, clonazepam, baclofen. These medications are muscle relaxants, and they are used if other medicines have not been effective. Side effects include drowsiness.
  • Other treatments that may be used include physical therapy.

In certain cases, surgery may be considered. Surgery that can help treat dystonia may include selective peripheral denervation— or cutting away the nerve endings in the affected body part. Another surgical option is deep brain stimulation, where a pulse generator is implanted in the

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