What Is Dystonia?

Dystonia is a type of involuntary movement that can be a symptom of neurological disease or a side effect of certain medications. The movements can interfere with daily life and cause physical discomfort.

For some people with dystonia, the appearance of the movements can be embarrassing or distracting. Dystonia is not dangerous or life-threatening, but it can interfere with the quality of life. Medical treatments can help alleviate dystonia.

This article will discuss the types of dystonia, its symptoms, causes, diagnosis, treatment, and prognosis, and how to cope with it.

Types of Dystonia 

The most common types of dystonia are focal or segmental. Focal dystonia involves a small area of the body, such as the hand. Segmental dystonia may involve a larger area, such as the whole arm.

Dystonia often involves more than one area of the body, but the movements in each area of the body don’t have to occur at the same time. The term for this is multifocal dystonia.

Some types of dystonia include:

• Cervical dystonia (torticollis) affects the neck.
• Blepharospasm affects both eyes.
• Laryngeal dystonia causes difficulty making sounds.
• Generalized dystonia affects many areas of the body.
• Hemidystonia affects one side of the body.

Dystonia Symptoms

Dystonia is an involuntary movement or set of movements that can last for seconds to minutes at a time or longer. The same movements may recur frequently every day.

Unlike a seizure, dystonic movements do not rapidly recur within a few seconds or minutes. Dystonia is not associated with any change in consciousness or awareness.

Symptoms of dystonia can include:

• Twisting of one side of the face, one arm, or one leg
• A prolonged posture of the eyelids, face, arm, hand, leg, or foot
• A sequence of involuntary movements that may include twisting, extending, or flexing a part of the body

These effects occur involuntarily, and there can be a pattern, such as an association with sleeping time or medication dose.

Causes

Conditions that cause damage to regions of the brain that are involved with mediating voluntary physical movements may lead to dystonia. It is especially associated with changes in the basal ganglia, which is located in the brain stem.

Certain medical conditions and risk factors can lead to dystonia, but sometimes it may occur without an identifiable cause.

Some of the conditions that can lead to dystonia include:

• Parkinson's disease: a progressive condition in which dopamine-producing brain cells die
• Medications: especially medications that treat psychiatric disorders
• Cerebral palsy: a condition present at birth that affects the brain's communication with the muscles
• Brain damage due to stroke or head trauma
• Multiple sclerosis: an autoimmune disorder in which the immune system attacks the protective sheath of nerves in the brain, spinal cord, and eye
• A tumor in the brain
• Wilson’s disease: a disorder of copper metabolism that affects the liver and the brain
• Rett syndrome: a neurodevelopmental disease
• Genetic factors: especially mutations that have been identified in the DYT1 gene

These conditions can cause disturbances in the production of, the release of, or the response to neurotransmitters (chemical messengers between nerve cells) that control movement.

Dopamine is a neurotransmitter that is particularly associated with the control of movements. A defect in dopamine production or responsiveness is often associated with dystonia.

Diagnosis

Dystonia is diagnosed based on a medical history of the symptoms as well as a physical examination. Sometimes diagnostic testing is necessary to identify the cause of dystonia, which can help determine the best steps for treating the symptoms and the underlying condition.

When you go for an evaluation for your movement complaints, your healthcare provider will ask you questions about the frequency, timing, triggering factors, type of movements, and the parts of the body that the movements affect.

Your physical examination will include a comprehensive neurological examination. Your healthcare provider will observe you to see if you experience any involuntary movements during your physical examination. You might not necessarily have them during your medical visit, depending on how frequently they occur.

Your provider will assess your muscle tone, muscle strength, reflexes, sensation, and ability to walk. Some types of dystonia are associated with changes in these aspects of the physical examination.

Diagnostic testing may include:

• Magnetic resonance imaging (MRI), which can detect tumors, stroke, or other structural changes in the brain
• Blood tests, which may identify genetic changes associated with dystonia

Treatment

Medication can sometimes treat dystonia, but interventional procedures are usually more effective and have fewer side effects. Sometimes, physical therapy may help you cope, but it does not completely treat dystonia.

Medication adjustments may be necessary if dystonia occurs as a medication side effect. However, this can be tricky when the medication is necessary to treat an underlying disorder, such as a mental health condition.

Oral medications, such as muscle relaxers or medications that affect dopamine levels, may help alleviate dystonia, but the side effects might be intolerable, and some can cause tardive dyskinesia.

Procedures

Some interventions can prevent the muscle from contracting involuntarily. Typically, procedures for managing dystonia are more useful when the involved muscle is localized and not when there are multiple areas throughout the body involved in the dystonic movement.

Procedures that can be used to help in the treatment of dystonia include:

• Botulinum toxin injections: This is an intervention in which a muscle paralytic is injected to prevent involuntary movement. This treatment typically lasts for several months and may need to be repeated.
• Denervation: This is a surgical intervention in which a nerve is permanently cut to prevent involuntary movements and possibly also to prevent pain.
• Electrical stimulation: During this treatment, electrical stimulation may be applied to the scalp to counteract the problematic nerve firing and muscle contraction.
• Deep brain stimulation: For some people with dystonia, a device may be implanted in the brain to provide electrical stimulation that can help reduce or prevent involuntary movements.

Prognosis 

Usually, dystonia does not go away on its own. Dystonia is often a symptom of underlying medical conditions or occurs as a side effect of medication. Medication can treat it, and sometimes, adjustments in the causative medication can result in the complete resolution of dystonia.

However, dystonia will not resolve unless it is either treated or the underlying cause is managed.

Coping 

Living with dystonia can be extremely challenging. Aside from medical management, physical therapy and lifestyle adjustments can help a person manage their day-to-day life.

Ways to cope include:

• Take note of the times of the day when dystonia tends to be worse and avoid activities that require substantial physical skill during those times.
• Maintain regular physical activity as directed by your physical therapist or occupational therapist so that you will not experience the harmful effects that can result due to physical inactivity, such as muscle contractures, muscle atrophy (shrinkage), and obesity
• Discuss pain treatments with a healthcare provider if you are experiencing pain due to your dystonia. These can include over-the-counter or prescription oral medications, topical creams, or massage. Other medical interventions for pain treatment may include injections of pain medication or muscle relaxants.
• Consider using mobility devices if your dystonia is making it difficult for you to safely and efficiently get around and do the things you need to do daily. This may include aids such as a brace or a walker as recommended by a healthcare provider and physical or occupational therapist.

Over time, dystonia can worsen if a progressive underlying medical condition is causing it. Sometimes, dystonia may improve with medication. You may need some adjustments in the lifestyle modifications that you make to cope with dystonia if the movements change in location or severity over the years.

Summary 

Dystonia is a type of involuntary movement in which the body takes on a sustained involuntary posture. It often results from medication or brain damage. Dystonia can be uncomfortable and interfere with day-to-day life.

There are treatments for dystonia, including medication and certain procedures that can help prevent involuntary movements.