Massachusetts General Hospital's Movement Disorders Unit sees patients from around the world for everything from the most common to the rarest of movement disorders.
The Dystonia Clinic is a regional referral center for adults and children seeking diagnosis and treatment for dystonia and related neurological disorders.
What is dystonia?
Dystonia is a chronic neurological condition that can affect any part of the body and has no cure. However, there are a variety of treatments that can help to minimize the symptoms.
What are the different types of dystonia?
Dystonia can affect both children and adults. When children are affected, dystonia is referred to as being ”early onset.” When adults over the age of 30 are affected, dystonia is referred to as being “late onset.“
Dystonia can affect any region(s) of the body. In children, dystonia typically begins in a foot or hand, making it difficult to keep the foot straight when walking or making it difficult to write. In children, dystonia is more likely to spread from the site of onset and affect more than one body part.
In adults, dystonia typically begins in the neck or the facial muscles, causing excessive eye blinking. In adults, dystonia is not likely to spread or, at most, may spread to an adjacent muscle. For example, an adult may have dystonia in the neck and jaw.
What are the risk factors for dystonia?
There are no known lifestyle habits, such as cigarette smoking, that affect the risk of developing dystonia.
What causes dystonia?
Genetic mutations can cause dystonia. The genetics of dystonia is an area of active research, and the number of identified genes increases almost every year.
What are the symptoms of dystonia?
The symptoms depend on the body part that is affected. In children, typically the foot begins to turn inward at the ankle or handwriting becomes difficult. The child may begin to complain of pain in the affected body part.
In adults, dystonia typically affects either the eyes, resulting in frequent blinking that make it difficult to keep the eyes open in order to drive safely, or the neck, resulting in twisting or pulling of the neck to one side. Adults can also develop dystonia of the vocal folds, known as spasmodic dysphonia, resulting in words getting cut off and difficulty in projecting one’s voice.
How is dystonia diagnosed?
There is no definitive test to establish a diagnosis of dystonia. The diagnosis is made based on medical history and physical exam, performed by an experienced physician.
Treatment for Dystonia
Dystonia can affect any part of the body, such as limbs, hands, the torso, eyelids, face, neck and/or vocal cords. It is a chronic condition that has no cure. Treatment focuses on symptom management to improve the patient’s quality of life and ability to function.
Every patient has a unique set of symptoms, and treatment plans must be individualized. Patients may respond to oral medications, botulinum toxin injections, braces, physical therapy or a combination of these treatments. Finding the most effective treatment regimen for the patient can sometimes take time.
If oral and/or injected medications don't achieve the desired results, the patient may benefit from deep brain stimulation (DBS). This surgical procedure, which involves implanting an electrode (i.e. stimulator) in the brain to interrupt neural activity, can alleviate symptoms in carefully selected patients with severe dystonia.