Sign In
Cook Children's
Patient Portal

Dystonia

Dystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures. The movements may be painful, and some individuals with dystonia may have a tremor or other neurologic features. There are several different forms of dystonia that may affect only one muscle, groups of muscles, or muscles throughout the body. Some forms of dystonia are genetic but the cause for the majority of cases is not known.

Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.

Early-onset dystonia often begins with symptoms in the limbs and may progress to involve other regions of the body. Some symptoms tend to occur after periods of exertion and/or fluctuate over the course of the day.

Dystonias often progress through various stages. At first, your child's dystonic movements may be intermittent and appear only during voluntary movements or stress. Later, your child may develop dystonic postures and movements while walking and, ultimately, even while they are relaxed.

Who gets it?

Dystonia affects men, women and children of all ages and backgrounds. Estimates suggest that no fewer than 300,000 people in North America are affected. Dystonia causes varying degrees of disability and pain, from mild to severe. There is presently no cure, but multiple treatment options exist and scientists around the world are actively pursuing research toward new therapies.

Dystonia can be associated with numerous diseases and conditions. These include specific vascular conditions, infections, brain tumors, metabolic conditions, neurodenegerative disorders, demyelinating disorders, and structural conditions.

What are the causes?

The dystonias can be divided into three groups: idiopathic, genetic, and acquired.

  • Idiopathic dystonia refers to dystonia that does not have a clear cause. Many instances of dystonia are idiopathic.
  • There are several genetic causes of dystonia. Some forms appear to be inherited in a dominant manner, which means only one parent who carries the defective gene is needed to pass the disorder to their child. Each child of a parent having the abnormal gene will have a 50 percent chance of carrying the defective gene. It is important to note the symptoms may vary widely in type and severity even among members of the same family. In some instances, persons who inherit the defective gene may not develop dystonia. Having one mutated gene appears to be sufficient to cause the chemical imbalances that may lead to dystonia, but other genetic or even environmental factors may play a role. Knowing the pattern of inheritance can help families understand the risk of passing dystonia along to future generations.
  • Acquired dystonia, also called secondary dystonia, results from environmental or other damage to the brain, or from exposure to certain types of medications. Some causes of acquired dystonia include birth injury (including hypoxia, a lack of oxygen to the brain, and neonatal brain hemorrhage), certain infections, reactions to certain drugs, heavy metal or carbon monoxide poisoning, trauma, or stroke. Dystonia can be a symptom of other diseases, some of which may be hereditary. Acquired dystonia often plateaus and does not spread to other parts of the body. Dystonia that occurs as a result of medications often ceases if the medications are stopped quickly.

What are the symptoms?

Dystonia can affect many different parts of the body, and the symptoms are different depending upon the form of dystonia and how many muscles are affected. Early symptoms may include:

  • A foot cramp
  • Tendency for one foot to turn or drag–either sporadically or after running or walking some distance
  • Handwriting that gets shaky or uncontrolled after writing several lines
  • Neck turns or pulls involuntarily, especially when your child is tired or under stress
  • Both eyes blink rapidly and uncontrollably
  • Spasms cause your child to close their eyes
  • Tremors or tics
  • Difficulty speaking

In some children, dystonia may occur only during a specific action or activity. For instance, your child's hand may be fine when using a computer keyboard, but not when writing by hand. Sometimes your child's symptoms are only noticeable after prolonged exertion, stress or fatigue.

What is dystonia?

Dystonia is a movement disorder that causes the muscles to contract and spasm involuntarily. Opposing muscles often contract simultaneously as if they are 'competing' for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures. There are multiple forms of dystonia, and dozens of diseases and conditions may include dystonia as a symptom.

Dystonia may affect only one area of your child's body or be generalized throughout many muscle groups.

Although there are several forms of dystonia and the symptoms may outwardly appear quite different, the element that all forms share is the repetitive, patterned, and often twisting involuntary muscle contractions.

Dystonia is a chronic disorder, but in most cases, dystonias do not affect cognition or intelligence, nor do they shorten a person's life span. The main exception to this is dystonia that occurs as a symptom of another disease or injury to the brain that can cause such complications.

How is dystonia diagnosed?

At this time, there is no single test to confirm the diagnosis of dystonia. Instead, the diagnosis rests in a physician's ability to observe symptoms of dystonia and obtain a thorough patient history. In order to correctly diagnose dystonia, doctors must be able to recognize the physical signs and be familiar with the symptoms. In certain instances, tests may be ordered to rule out other conditions or disorders. Our movement disorder neurology team is recognized as one of the finest available and is recognized for breakthrough treatments like the use of deep brain stimulation to treat severe cases, helping to improve a child's ability to control their movements.

The dystonia diagnostic process may include:

  • Patient history
  • Family history
  • Laboratory studies such as blood and urine tests, and analysis of cerebrospinal fluid
  • Electrical recording techniques, such as electromyography (EMG) or electroencephalography (EEG)
  • Genetic testing for specific forms of dystonia
  • Other tests and screenings intended to rule out other conditions or disorders

How is it treated?

While there is no cure for dystonia just yet, our neurology team offers some of the most advanced treatments available to relieve your child's spasms. The type of treatment your doctor recommends will depend on your child's symptoms and on the cause of their dystonia, and may include:

Working together

The neurology specialists in our Movement Disorder Clinic are actively involved in research programs all around the world in an effort to seek better and better treatment and even cures for kids, teens and young adults who are challenged by dystonia every day. In addition, we work closely with all of our Neurosciences Center specialists, such as neurologists, neurosurgeons, neurogeneticists, neurodiagnosticians, physical and occupational therapists who are highly trained and skilled in neurorehabilitation, and nurse practitioners who specialize in movement disorders. Your child's team may also include doctors from other Cook Children's specialty services and programs, including Child Life and Social Services.

We also offer support groups for parents, families, and siblings, In addition, our librarians are more than happy to put together and information packet on your child's condition. They've also put together a Health Care Notebook, which is available as a free download on our website. The Cook Children's Health Care Notebook helps you keep a record of all of your child's appointments, medications, treatments, even birth certificates, growth charts, immunizations, etc., in a single location, that's easy to take with you.

Of course, the team would not be complete without you. Parents, family and caregivers play a very important role in the decision-making and continuing care of every child we see. After all, at the end of the day, there's only one thing that matters, your child's well-being.

We're here to help.

If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-885-2500.