What is Dystonia?

 

Dystonia is a Movement Disorder

Dystonia is a neurological disorder that causes excessive, involuntary muscle contractions. These muscle contractions result in abnormal muscle movements and body postures, making it difficult for individuals to control their movements. The movements and postures may be painful. Dystonic movements are typically patterned and repetitive.

Dystonia can affect any region of the body including the eyelids, face, jaw, neck, vocal cords, torso, limbs, hands, and feet. Depending on the region of the body affected, dystonia may look quite different from person to person.

In addition to involuntary movements and postures, depression and anxiety are frequent non-motor symptoms of dystonia.

Primary dystonia affects an estimated 300,000 people in the United States and Canada. But that is just the tip of the iceberg when it comes to understanding the true prevalence of all dystonias.

Secondary dystonias that are caused by a number of diseases and traumas are much more prevalent than the primary forms. When we look at the dozens of diseases that can cause dystonia such as Parkinson's, Huntington's, and Multiple Sclerosis the numbers of dystonia can be propelled into the millions.

With this in mind, it is fair to say that discovery in dystonia research can have a far-reaching impact on diseases such as Parkinson's and Huntington's and other neurological diseases and disorders.

 

Common Signs of Dystonia

  • A body part is flexed or twisted into an abnormal position.
  • Repetitive and patterned body movements, which may resemble tremors.
  • Dystonic symptoms may worsen or occur only with specific tasks. For example, hand dystonia may be present only when writing or playing a musical instrument.
  • Attempting a movement task on one side of the body may activate dystonia symptoms on the opposite side.
  • Dystonic movements and postures may be temporarily relieved by a gentle touch or specific action called a sensory trick.

 

How is Dystonia Diagnosed?

At this time, there is no single test to confirm the diagnosis of dystonia. Instead, the diagnosis rests in a physician's ability to observe the symptoms and obtain a thorough patient history. Medical tests may be ordered to rule out other conditions or disorders.

The sub-specialist who typically has the training to diagnose and treat dystonia is a movement disorder neurologist.

The dystonia diagnostic process may include:

  • Patient history
  • Family history
  • Physical examination to assess the functioning of the nervous system
  • Laboratory studies such as blood and urine tests, and analysis of cerebrospinal fluid
  • Electrical recording techniques, such as electromyography (EMG) or electroencephalography (EEG)
  • Genetic testing for inherited forms of dystonia
  • Additional tests and screenings intended to rule out other conditions or disorders

 

Common Misdiagnoses

Dystonia symptoms should not be confused with:

  • Orthopedic conditions (for example, scoliosis and congenital torticollis)
  • Muscle cramps
  • Muscle contractures
  • Essential tremor
  • Tics

 

Dystonia Vocabulary

Your healthcare providers may use unfamiliar language to talk about dystonia:

Focal: Dystonia that affects a single body part, for example, the neck.

Segmental: Dystonia that affects two or more connected body parts, for example, the face, neck, and arm.

Generalized: Dystonia that affects the torso and at least two other body areas, frequently the limbs.

Isolated or Primary: Dystonia is the only neurological symptom a person appears to have.

Acquired or Secondary: Dystonia that appears to have a specific cause such as drug reaction, brain injury, or as a symptom of another neurological or metabolic disorder.

Paroxysmal Dyskinesias: Dystonia may occur in episodes, often with additional movement symptoms.

Functional: Dystonia may occur as part of a functional neurological disorder.

 

Click here for more information

Click here to download the "What Is Dystonia" brochure

Click here for an overview of dystonia and information on treatments, courtesy of DMRF

 

This information has been taken from the Dystonia Medical Research Foundation (DMRF). Thank you to DMRF for allowing us to share this information.

Last update: Sep 2022