What is Dystonia?

What is Dystonia?

Dystonia is a movement disorder that causes the muscles to contract and spasm involuntarily. The neurological mechanism that makes muscles relax when they are not in use does not function properly. Opposing muscles often contract simultaneously as if they are “competing” for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures. There are approximately 13 forms of dystonia, and dozens of diseases and conditions include dystonia as a major symptom.

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Dystonia may affect a single body area or be generalized throughout multiple muscle groups. Dystonia affects men, women, and children of all ages and backgrounds.

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 cases can be propelled into the millions.

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

Dystonia causes varying degrees of disability and pain, from mild to severe. There is presently no cure, but multiple treatment options exist and scientists around the world are actively pursuing research toward new therapies.

Although there are multiple forms of dystonia and the symptoms of these forms may outwardly appear quite different, the element that all forms share is the repetitive, patterned, and often twisting involuntary muscle contractions.

Dystonia is a chronic disorder, but the vast majority of dystonias do not impact cognition, intelligence, or shorten a person’s life span. The main exception to this is dystonia that occurs as symptom of another disease or condition that already exists. 

For an overview of dystonia and information on treatments, you can watch the video below:

 

Cause

Categorizing dystonia by the cause is not a simple task and can easily get complicated because scientists have not yet identified the precise biochemical process in the body that triggers the symptoms. This is often referred to as the “mechanism” of dystonia, and it is suspected that this mechanism is common to all forms of dystonia.

On the other hand, we do know that dystonia can occur as a result of trauma, certain medications, and mutated genes. So, we may say that the mutated DYT1 gene or physical trauma cause dystonia, but these explanations do not address the true origin of the dystonia and what happens inside the body to produce the symptoms.

When describing dystonia by the cause, it may be characterized as primary, secondary, or dystonia-plus.

Diagnosis

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 symptoms of dystonia and obtain a thorough patient history. In order to correctly diagnose dystonia, doctors must be able to recognize the physical signs and be familiar with the symptoms. In certain instances, tests may be ordered to rule out other conditions or disorders. The kind of physician who is typically in the best position to diagnose dystonia is a movement disorder neurologist.

The dystonia diagnostic process may include:

  • Patient history
  • Family history
  • 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 specific forms of dystonia
  • Other tests and screenings intended to rule out other conditions or disorders

Prognosis

Dystonia does not define who you are. People with all forms of dystonia have been able to become educated, work, remain independent and active, date and marry, enjoy children and family, and live productive fulfilled lives. Individuals may have to adjust activities and lifestyle to incorporate dystonia, but it must be stressed that having this disorder does not define who you are.

Dystonia includes a wide variety of symptoms and characteristics, and each person with dystonia is unique. At this time, there is no way to predict the prognosis of the disorder. Most cases of primary dystonia (both generalized and focal forms) will usually stabilize within five years of onset. Even when stabilized, symptoms may fluctuate. For example, stressful situations may make symptoms temporarily worse. Currently, no medication or therapy can prevent progression from happening. Prompt diagnosis and treatment can often minimize the impact of symptoms and improve or maintain a person’s ability to function in everyday activities.

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