Dystonia

What is Dystonia?

Dystonia is a movement disorder characterized by involuntary muscle contractions that cause twisting and repetitive movements or abnormal postures. Depending on the cause of, your doctors may discuss treatment options, including medications and physical therapy, injections such as botulinum toxin. These treatments can help manage symptoms and improve function. In some cases, surgery is used to disable or regulate nerves or certain brain regions in people with severe dystonia.

Symptoms & Complications

Dystonia affects different people in different ways.

Muscle spasms might:

• Begin in a single area, such as your leg, neck, or arm.
• Occur during a specific action, such as writing by hand.
• Worsen with stress, fatigue, or anxiety.
• Become more noticeable over time.

• Depending on the type of dystonia, areas of the body that can be affected include:

• Neck (cervical dystonia). Contractions cause the head to twist to one side or pull forward or backward.
• Eyelids (blepharospasm). Rapid blinking or muscle spasms can cause the eyes to close, making it hard to see. The muscle spasms are usually painless and may worsen in bright light, when reading, watching TV, interacting with people, or under stress.
• Jaw or tongue (oromandibular dystonia). This type of dystonia can be painful and cause slurred speech, drooling, and difficulty chewing or swallowing. It often occurs with cervical dystonia or blepharospasm.
• Voice box and vocal cords (laryngeal dystonia). This can cause a strained or whispery voice.
• Hand and forearm. Some types of dystonia occur only during repetitive activities, such as writing or playing a musical instrument. These are known as writer's dystonia and musician's dystonia. Symptoms usually don't occur when the arm is at rest.

Causes & Risk Factors

The exact cause of dystonia isn't known. But it might involve changes in communication among nerve cells across several brain regions that coordinate muscle movements.

Dystonia can also be a symptom of another disease or condition, including:

• Parkinson's disease.
• Huntington's disease.
• Wilson's disease.
• Traumatic brain injury.
• Birth injury.
• Stroke.
• Brain tumor or certain conditions that develop in some people with cancer, known as paraneoplastic syndromes.
• Lack of oxygen or carbon monoxide poisoning.
• Infections, such as tuberculosis or encephalitis.
• Reactions to certain medicines or heavy metal poisoning.

Your risk for dystonia increases if you have a family history of the movement disorder. Women also have a two-times higher risk of developing dystonia than men.

Diagnosis & Treatment

To diagnose dystonia, your healthcare team begins with a medical history and physical exam that might include:

• Blood or urine tests to reveal signs of toxins or other conditions.
• MRI or CT scan to look for changes in your brain, such as tumors or evidence of a stroke.
• Electromyography (EMG) to measure the electrical activity within muscles.
• Genetic testing. Some forms of dystonia are associated with certain genes. Knowing if you have these genes can help guide treatment.

Treatment

To manage dystonia, your healthcare professional might recommend a combination of medicines, therapy, or surgery.

Medicines

• Injections of botulinum toxin (Botox, Dysport, others) into specific muscles might reduce or stop your muscle spasms. Injections are usually repeated every 3 to 4 months. Side effects are generally mild and temporary. They can include weakness, dry mouth, or voice changes.
• Other medicines target chemicals in your brain called neurotransmitters that affect muscle movement.

Therapy

• Physical therapy, occupational therapy, or both to help ease symptoms and improve function.
• Speech therapy if dystonia affects your voice.
• Stretching or massage to ease muscle pain.

Surgery

If your symptoms are serious, there are a few types of surgery to treat dystonia, including:

• Deep brain stimulation. Electrodes are surgically implanted in a specific part of your brain and connected to a generator implanted in your chest. The generator sends electrical pulses to your brain that may help control your muscle contractions. The generator's settings can be adjusted to treat your specific condition.