Dystonia is a movement disorder that causes the muscles to contract and spasm involuntarily. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures. Dystonia may affect a single body area or be generalized throughoutmultiple muscle groups. 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.
Categorizing dystonia by the cause is not a simple task and can easily get complicated. 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 (or idiopathic), dystonia-plus, heredo-degenerative, secondary or paroxysmal.
The word primary describes a case in which the dystonia is the only neurological disorder that the person has.
Primary dystonias: include some genetic forms (such as DYT1 dystonia in which a gene has been identified) and forms for which a cause is not usually found (such as most focal dystonias). Sometimes, instead, dystonia occurs along with symptoms of other neurological disorders or has a particular quality that resembles another disorder.Secondary dystonias are cases that can be attributed to drug exposure, trauma, or another disease or condition.
Secondary dystonias: include insults to the brain caused by certain kinds of tumours, infections, stroke, metabolic conditions, and toxins. Some medications can cause secondary dystonia and must be considered as an important cause.
Dystonia includes a wide variety of symptoms and characteristics and each person with dystonia is unique.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 having this disorder does not define who you are. 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.
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
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 need of the individual, no single strategy will be appropriate for every case.
The purpose of treatment for dystonia is to help lessen the symptoms of muscle spasms, pain, and awkward postures. The ultimate goal is to improve the quality of your life and help you function with the fewest side effects possible. In most cases, the most appropriate kind of doctor to treat dystonia is a movement disorder neurologist.
Establishing a satisfactory treatment plan requires open communication and patience on the part of both the affected individual and the physician.
The first step in treating dystonia is to determine as much as possible about the underlying cause. When a person is first diagnosed with dystonia, a movement disorder specialist may recommend non-drug approaches prior to or in conjunction with traditional treatments such as oral medications.
These non-drug approaches may include physical and occupational therapy as well as speech or voice therapy if appropriate.
These approaches empower the individual with techniques to help achieve greater awareness and control over the body.
There are many medications that have been shown to improve dystonia. No single drug works for every individual, and several trials of medications may be necessary to determine which is most appropriate for you. Working with your physician to determine the drugs best suited for your case may be challenging, but finding the right drug(s) can result in a dramatic improvement in symptoms. There are several categories of medications used in the treatment of dystonia.
These categories include: anticholinergics, benzodiazepines, baclofen, dopaminergic agent/dopamine-depleting agents, tetrabenazine.The introduction of botulinum toxin as a therapeutic tool in the late 1980s revolutionized the treatment of dystonia by offering a new, localized method to significantly relieve symptoms for many people.Botulinum toxin, a biological product, is injected into specific muscles where it acts to relax the muscles and reduce excessive muscle contractions. Botulinum toxin is derived from the bacterium Clostridium botulinum.
It is a nerve "blocker" that binds to the nerves that lead to the muscle and prevents the release of acetylcholine, a neurotransmitter that activates muscle contractions.If the message is blocked, muscle spasms are significantly reduced or eliminated.
Surgical treatments for dystonia may be an option for individuals whose symptoms do not respond to oral medications or botulinum toxin injections. Researchers are actively refining current techniques and collecting information about which patients may benefit the most from surgical treatments.