What you need to know about dystonia

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Dystonias are neurologic disorders that involve unintentional movements, such as muscle spasms and contractions. These can be painful.

Different types affect different parts of the body. Some occur only with a specific action, such as typing. Symptoms may worsen during prolonged activity or with fatigue or stress. In some cases, they can become more severe with time.

Some cases are genetic and may run in families. Others result from environmental factors, such as damage to the brain, exposure to toxins, or the use of some medications. In many cases, there is no clear cause.

There is currently no cure for dystonia, but medication, surgery, and physical therapy may help relieve symptoms.

The symptoms of dystonia vary from mild to severe and can impact different parts of the body, depending on the type. Some types affect posture.

The symptoms can be painful, and there may also be a tremor or other neurological symptoms.

Specific early symptoms will depend on the type of dystonia. Common examples are:

• foot cramps
• a “dragging leg”
• a worsening of handwriting after writing a few lines

Other symptoms include:

• twisting or shaking movements
• repetitive movements such as uncontrollable blinking
• difficulty speaking
• involuntary pulling, for example of the neck

Symptoms may worsen with fatigue, stress, or prolonged activity and improve with relaxation and rest. Some occur when specific actions trigger them.

In some cases, they can worsen over time. A person may start with symptoms in one area that then spread to other parts of the body.

The length of time movements last can vary. Some last for seconds or minutes, while others continue for weeks or months.

Below are some examples of dystonias and the symptoms they can involve:

Cervical dystonia

Cervical dystonia affects the muscles in the neck. Symptoms can include:

• twisting of the chin toward the shoulder (torticollis)
• tipping the head forward, backward, or sideways
• shifting the head forward or backward on the shoulders
• tremor in the hands

Certain postures or positions can trigger symptoms, and they can worsen with stress or excitement. Touching the cheek or the back of the head may help relieve symptoms.

Complications can arise, such as cervical spine arthritis, compression of nerve roots, and narrowing of the spinal cord in the neck. Some people experience severe pain. Remission can occur, but it is usually temporary.

Blepharospasm

This type affects the muscles around the eyes.

Symptoms include:

• eyelid twitching
• involuntary blinking
• other facial movements, in some cases

At first, it may happen only from time to time, but some people develop a severe, long-term twitch.

Sometimes twitching occurs alone and for no apparent reason. It can also happen with:

• Parkinson’s disease
• dry eyes
• too much caffeine
• lack of sleep

A person should seek medical advice if:

• symptoms last longer than a few weeks
• the eyes close completely
• other facial muscles also twitch

Here, learn more about eyelid twitching.

Dopa-responsive dystonia

Dopa-responsive dystonia usually starts in childhood. It gets its name from its treatment, as it responds well to levodopa, a medication that boosts dopamine production in the brain.

Starting from around age 6, the person may have:

• feet that turn inward or upward
• muscle contractions, tremors, and uncontrolled movement in the legs
• symptoms moving to the arms and then the whole body by adolescence
• unusual limb position
• lack of coordination when walking or running

Complications can include:

• sleep problems
• depression
• Parkinsonism, which involves a range of movement problems

The symptoms can vary from mild to severe but usually stabilize around age 30.

Generalized dystonia

Generalized dystonia usually starts during the childhood or teenage years. It affects groups of muscles in different parts of the body. It usually starts in the trunk or limbs.

Symptoms include:

• a turned or twisted foot, often as the first sign
• difficulty coordinating or controlling body movements
• twisting in the trunk or limbs
• muscle spasms which may or may not be painful
• unusual gait
• rapid, rhythmic, or jerky movements
• some parts of the body may remain in an unusual position

Other types

Other types of dystonia include:

Hemifacial spasm affects muscles on one side of the face.

Laryngeal dystonia causes spasms in the voice box (larynx). It can affect voice quality, leading to hoarseness or interruptions in sound. It may become difficult for a person to speak.

Oromandibular dystonia involves spasms in muscles of the mouth, tongue, and jaw. The person may repeatedly open and close their jaw or protrude their tongue.

Task-specific dystonias include writer’s cramp — which affects the arm and wrist — musician’s cramp, typist’s cramp, and golfer’s cramp. These types can cause painful cramps in specific parts of the body and only occur while doing that activity.

Paroxysmal dystonia can cause tremor, pain, and twisting of the body, limbs, or face. It can resemble a seizure, but the person does not lose awareness or sensation. It can last from a few minutes to several hours. Triggers include stress, fatigue, consuming coffee or alcohol, and sudden movements. It usually starts in the teenage years.

Doctors use different ways of classifying dystonias. According to the National Organization for Rare Disorders (NORD), they may classify them:

• by clinical features, including age, onset, and which parts of the body they affect
• by body part and if it involves one or more areas
• by time, depending on whether it becomes worse or stays the same with activity or at different times of day
• by etiology, which looks at underlying neurological damage, genetic and environmental influences, or if there is no identifiable cause

NORD notes that the different approaches can confuse people. It has called for a standard way of classifying dystonias.

Dystonia can result from genetic or environmental factors.

Genetic changes may be present from birth and are sometimes inherited. Different genetic factors can affect the balance of chemicals in ways that can lead to different types of dystonia.

Environmental factors and health conditions that can trigger dystonias include:

• a lack of oxygen to the brain
• brain hemorrhage
• the use of drugs such as antipsychotics, dopamine agonists, and others
• exposure to heavy metals or carbon monoxide
• a brain tumor
• infections, such as encephalitis
• stroke
• traumatic brain injury or spine injury
• Wilson’s disease

Problems with the basal ganglia — a part of the brain that controls involuntary movements — appear to account for some types of dystonia.

However, some researchers say this does not explain all the types of dystonia and suggest that other brain regions may be involved.

A doctor will start by asking the person about their symptoms and carrying out a physical examination. They will also consider the person’s medical and family history.

The doctor may also carry out tests to see if there is an underlying cause. Possible tests include:

• blood and urine tests to check for toxins and infections
• an MRI scan to rule out a tumor.
• levodopa treatment to see if symptoms improve
• genetic testing to see if there is an inherited condition

It can take several years to get a correct diagnosis of dystonia.

The treatment for dystonia will depend on the cause and type. There is currently no cure, but the following medications may help relieve symptoms.

• Botulinum toxin (Botox) injections block the release of the neurotransmitter acetylcholine, which causes muscles to contract.
• Dopaminergic agents either boost or lower brain levels of dopamine, a neurotransmitter involved in movement.
• Anticholinergics block the release of acetylcholine.
• Muscle relaxants, such as diazepam (Valium), regulate the neurotransmitter GABA, but they can cause drowsiness.

Can Botox help with cervical dystonia?

Physical therapy

Physical therapy can help a person manage their posture. They may also learn some physical tricks that can help relieve the symptoms of some types of dystonia.

Speech therapy and biofeedback may help in some cases.

Some people benefit from education and counseling. Dystonias are usually lifelong conditions. Learning as much as possible about them can help a person manage their health and improve their quality of life.

Surgery

If other therapies do not help, a doctor may recommend surgery. One such procedure is selective peripheral denervation for treating cervical dystonia. It involves cutting some of the nerve endings in the neck that connect to the affected muscles.

Deep brain stimulation

In deep brain stimulation, a surgeon places tiny electrodes in the basal ganglia, and a pulse generator, similar to a pacemaker, under the skin on the chest. A wire connects the two parts.

The pulse generator sends signals that help block abnormal nerve impulses produced by the basal ganglia. This may help reduce unwanted movements.

Dystonias are movement disorders. There are many types, and they can affect people of different ages and in different ways. For each type, symptoms can range from mild to severe.

There is currently no cure for dystonias, but various medications may help. Physical therapy, surgery, and deep brain stimulation are also options.