Dystonia

Dystonia is a movement disorder that causes muscles to contract involuntarily, leading to twisting motions, repetitive movements, or unusual postures that a person cannot control. The condition can affect one part of the body or spread to multiple areas, and while there is no cure, various treatments can help manage symptoms and improve quality of life.

Table of contents

• What is Dystonia?
• Symptoms and How Dystonia Affects the Body
• Causes and Risk Factors
• Types of Dystonia
• How Dystonia is Diagnosed
• Treatment Options
• Living with Dystonia

What is Dystonia?

Dystonia is a nervous system disorder that causes uncontrollable muscle contractions, meaning a person’s muscles tense up without trying to make them do so^[1]. Though it affects muscles, it is actually an issue with your brain or another part of your nervous system^[2].

The name “dystonia” combines the Latin prefix “dys-” and the Greek word “-tonos,” which refers to muscle tension. The combination describes a problem where your muscles tense up in a way that is faulty or incorrect^[2].

Dystonia results from abnormal functioning of the basal ganglia, a deep part of the brain which helps control coordination of movement. These regions of the brain control the speed and fluidity of movement and prevent unwanted movements^[6].

The available research indicates that dystonia affects about 300,000 people in the United States, making it the third most common movement disorder behind essential tremor and Parkinson’s disease^[2][6]. However, it is difficult to know exactly how common dystonia is because experts believe it is underdiagnosed, as dystonia can take so many different forms^[2].

Symptoms and How Dystonia Affects the Body

The key symptom of dystonia is uncontrollable muscle movements. These movements are often uncomfortable or even painful, sometimes feeling like electric shocks. They can be repetitive, especially with tremors, and vary in how long they last—some last seconds or minutes while others can continue for months^[2].

Muscle spasms in dystonia have a twisting or stretching nature, causing a person to look like they are holding an unusual pose. The symptoms typically worsen when using the affected muscles^[2].

Dystonia affects different people in different ways. Muscle spasms might begin in a single area, such as your leg, neck, or arm. They may occur during a specific action, such as writing by hand, and often worsen with stress, fatigue, or anxiety. The symptoms can become more noticeable over time^[1].

The effects of dystonia can worsen when you feel tired or stressed, or if you drink caffeine or alcohol^[2].

Areas of the Body Commonly Affected

Neck (Cervical Dystonia): When the neck muscles are involved, it’s called cervical dystonia. Contractions cause the head to twist and turn to one side, or the head may pull forward or backward. Cervical dystonia sometimes causes pain and is the most common form of adult-onset dystonia^[1][3].

Eyelids (Blepharospasm): When muscles controlling eye blinks are involved, rapid blinking or muscle spasms can cause your eyes to close, making it hard to see. The muscle spasms usually aren’t painful but might increase in bright light or while reading, watching TV, or interacting with people^[1].

Jaw or Tongue (Oromandibular Dystonia): This form affects the muscles of the jaw and tongue, and can cause slurred speech, difficulty chewing, or problems moving the tongue^[1][5].

Voice Box (Laryngeal Dystonia or Spasmodic Dysphonia): This affects the vocal cords, making your voice sound tight, shaky, or breathy^[5].

Hands or Feet (Limb Dystonia): This may happen only when doing certain things like writing or playing music, which is called task-specific dystonia. Curled, clenched toes or a painful cramped foot are telltale signs^[5][16].

Causes and Risk Factors

The exact cause of dystonia is not yet known but may involve changes in several regions of the brain or the communication between them^[6]. Dystonia is caused by faulty signals coming from the brain, though exactly how and why this happens is still a mystery^[2].

Dystonia can be classified by cause into primary and secondary forms^[3]:

Primary dystonia: In primary dystonia (also called idiopathic torsion dystonia), dystonia is the sole neurological sign, and other causes such as acquired or neurodegenerative processes have been ruled out. Primary dystonia is thought to have a greater genetic contribution, even in the absence of a family history. The precise cause is unknown, but there is some genetic susceptibility in conjunction with environmental factors^[3].

Secondary dystonia: Secondary dystonias are caused by environmental insult and are brought on by some identified causes, such as head injury, drugs, stroke, cerebral palsy, multiple sclerosis, or Parkinson’s disease^[3][4].

Some types of dystonia happen because of genetic mutations or conditions that disrupt the way parts of your brain work. This can cause the affected cells to work incorrectly, leading to faulty signals reaching your muscles^[2]. For early-onset primary dystonia, DYT 1 and DYT 6 are the two genes that are responsible^[3].

Depending on why it happens, anyone can develop dystonia. Some causes are age-specific, affecting people at birth or in childhood, while others are more likely to develop late in life^[2].

Types of Dystonia

Dystonia is classified by three main factors: the age at which symptoms develop, the areas of the body affected, and the underlying cause^[6].

Classification by Age

• Childhood onset: 0 to age 12
• Adolescent onset: age 13 to 20
• Adult onset: older than age 20

The chance that dystonia will affect multiple body parts is generally linked to the age of onset. The younger one is at onset, the greater the chance that symptoms will spread. Conversely, the older one is at onset, the more likely that the disorder will remain more moderate^[6].

Early-onset primary dystonia typically initially affects an extremity and then spreads, in many cases becoming generalized. Adult-onset dystonia usually involves either cervical, cranial, or brachial muscles, or remains focal or segmental^[3].

Classification by Body Part

Focal dystonia: This is limited to one area of the body. When the condition affects one part of the body, it’s called focal dystonia^[1]. Focal dystonia more commonly affects people in their 40s and 50s and is frequently referred to as adult-onset dystonia. Women are affected about three times more frequently than men^[6].

Segmental dystonia: This affects two or more areas of the body next to each other. It involves two or more parts of the body that are adjacent or close to one another. Up to 30 percent of people with focal dystonia have spasms in areas adjacent to the primary site^[1][6].

Multifocal dystonia: This involves two or more body parts distant from one another^[6].

Hemidystonia: This affects half of the body, such as the ipsilateral arm and leg^[6].

Generalized dystonia: When dystonia affects all parts of the body, it’s known as general dystonia. Generalized dystonias begin with leg involvement, but generally spread to one or more additional regions of the body^[1][6].

How Dystonia is Diagnosed

To diagnose dystonia, your healthcare team starts with a medical history and physical exam^[8]. If your doctor thinks you could have dystonia, they’ll refer you to a specialist called a neurologist for tests^[4].

Dystonia can be a difficult condition to diagnose. It is very common for patients to be misdiagnosed because the definition of dystonia—abnormal, involuntary twisting movements and tremors that are repetitive—can happen from many other different conditions. Strokes, multiple sclerosis, muscle conditions, and peripheral nerve conditions can all cause abnormal movements^[11].

Depending on the severity of symptoms, it can take years to receive a proper diagnosis. If symptoms are subtle, patients may bounce from one doctor to another for many years without a diagnosis or treatment^[11].

Diagnostic Tests

To look for conditions that may be causing symptoms, you might need several tests^[8]:

Blood or urine tests: These tests can reveal signs of toxins or of other conditions^[8].

MRI or CT scan: These imaging tests look for changes in your brain, such as tumors or evidence of a stroke^[8].

Electromyography (EMG): This test measures the electrical activity within muscles^[8].

Genetic testing: Some forms of dystonia are associated with certain genes. Knowing if you have these genes can help guide treatment^[8].

To diagnose dystonia, a neurologist may ask about your symptoms, ask about any other conditions you have and any medicines you’re taking, ask if anyone else in your family has dystonia (sometimes it can be inherited), carry out some blood and urine tests, and arrange a brain scan to look for any problems^[4].

Treatment Options

There is no cure for dystonia, but medicines and therapy can improve symptoms^[1]. To manage dystonia, your healthcare professional might recommend a combination of medicines, therapy, or surgery^[8].

Treatment can help relieve the symptoms of dystonia. The best option for you depends on the type of dystonia you have^[4]. Treatments must be individualized and tailored to each patient with attention to the patient’s age, anatomic distribution of dystonic symptoms, and the potential risk for adverse effects^[9].

Botulinum Toxin Injections

Injections of botulinum toxin (Botox, Dysport, others) into specific muscles might reduce or stop your muscle spasms. These are shots given into the tight muscles that help the muscle relax. Injections usually are repeated every 3 to 4 months^[4][8]. Side effects are generally mild and temporary. They can include weakness, dry mouth, or voice changes^[8]. These shots must be done by a trained doctor^[5].

Oral Medications

Other medicines target chemicals in your brain called neurotransmitters that affect muscle movement^[8]. Some people take pills that relax the muscles or calm the nerves^[5]. The options include:

Carbidopa-levodopa: This medicine can increase levels of the neurotransmitter dopamine. Levodopa also may be used as a trial to help diagnose certain types of dystonia^[8].

Anticholinergics: Trihexyphenidyl and benztropine act on neurotransmitters other than dopamine. Side effects can include memory loss, blurred vision, drowsiness, and dry mouth^[5][8].

Benzodiazepines: These help relax muscles^[5].

Baclofen: This medication also helps with muscle relaxation^[5].

Your doctor may need to try a few different medicines to see what works best^[5].

Surgery

If other treatments don’t work, you might be able to get deep brain stimulation (DBS). Surgery is sometimes used to disable or regulate nerves or certain brain regions in people with serious dystonia^[1]. This uses a small device, similar to a pacemaker, placed under the skin of your chest or tummy. The device sends electrical signals along wires placed in the part of the brain that controls movement^[4][5].

Physical Therapy and Rehabilitation

Physiotherapy and occupational therapy may also help^[4]. Regular, appropriate exercise—including alignment, position awareness, gentle lengthening exercises, walking, and swimming—at a level that supports energy without over-fatiguing the body can be beneficial^[18].

Using relaxation techniques such as mindfulness, deep breathing, or grounding strategies can help reduce stress, which can worsen symptoms. Some people find that identifying their sensory tricks—like light touch, humming, or using mirrors—may temporarily reduce spasms^[18].

Living with Dystonia

Dystonia affects people in different ways. The severity of symptoms can vary from one day to another. It can have a big effect on your life and make daily activities painful and difficult. It’s usually a lifelong condition. It may get worse for a few years but then remain steady. Occasionally, it can improve over time^[4].

While dystonia can be a lifelong problem, people with dystonia can live a relatively normal lifestyle, though some may need assistance with all activities of daily living. Usually, people with dystonia can live a relatively normal lifestyle, while others need assistance with all activities of daily living^[3].

Up to 30 percent of people with Parkinson’s disease experience dystonia. Who can get it? It can occur throughout all stages of Parkinson’s disease, but is a common early symptom of Young-Onset Parkinson’s^[16].

Strategies for Daily Living

If you have recently gotten a diagnosis of dystonia or are just learning about the condition, you may feel overwhelmed. The good news is that there are strategies that can help make life easier^[13].

Find a good specialist: Finding the right specialist can make a big difference in your treatment regimen. Consult with knowledgeable doctors who specialize in neurology. Make sure that the specialist understands your condition and your goals for recovery^[13].

Choose appropriate therapy: There are many therapy options available. You can discuss your symptoms and goals with your therapist, who may prescribe a combination of several types of therapy depending on each case of dystonia^[13].

Exercise daily: You need a regular exercise program tailored to your needs. Exercise will help prevent muscle stiffness and increase endurance, providing a higher level of comfort throughout the day. Regular exercise is not only beneficial for those living with dystonia—it is an essential tool for managing the condition over time^[13].

Manage stress: Stress or fatigue can make dystonia symptoms worse. Finding ways to manage stress through relaxation techniques can be helpful^[4][16].

Balance activity and rest: Managing fatigue and ensuring recovery time is important. Monitoring symptom patterns by keeping a journal or record of how symptoms change across the day or in different environments can help you understand your condition better^[18].

Find support: Living with dystonia can be difficult and time-consuming. Finding support from others who understand the condition can help reduce feelings of isolation^[13].

Some people find that slowing their breathing, mindfully visualizing a relaxing image (waves, music, waterfalls), or counting slowly can help somewhat control the muscles during dystonia episodes^[16].