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.
Dystonia may affect a single area of the body or be present throughout multiple muscle groups. Dystonia affects men, women, and children of all ages and backgrounds.
Secondary dystonias are caused by diseases and traumas. Secondary dystonias are much more prevalent than the primary forms (where dystonia is the root health concern). When the dozens of diseases that can cause dystonia such as Parkinson’s, Huntington’s and Multiple Sclerosis are considered, the number of dystonia cases can be propelled into the millions.
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 researching new therapies.
Dystonia is a chronic disorder, but most dystonia cases do not impact cognition, intelligence, or shorten a person’s life span. The main exception to this is dystonia that occurs as a symptom of another disease or condition that already exists.
Causes of dystonia
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.
Currently there is no single test to confirm the diagnosis of dystonia. Instead, the diagnosis depends on a physician’s ability to observe symptoms of dystonia and obtain a thorough patient history. 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
Dystonia does not define who you are. People with all forms of dystonia have been able to pursue education, work, remain independent and active, form romantic relationships, build families, and live full 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.
Although there is presently no cure for dystonia, multiple treatment options are available. Because every person with dystonia is unique, treatment must be highly customized to the individual. No single strategy will be appropriate for every case.
The treatment options for dystonia generally consists of several approaches:
- Non-drug therapies
- Oral medications
- Physical therapy
- Voice/speech therapy
- Botulinum toxin injections
- Complementary therapies
The information for this page was written and provided by the Dystonia Medical Research Foundation.