Dystonia is a movement disorder which involves ‘too much’ movement, causing twisting and/or abnormal postures that is out of the person’s control. Abnormal signals from these areas may cause muscles to be ‘activated’ at the same time and for too long. In many children, this is only seen when performing a task such as reaching for a toy, moving, or talking. In some children these movements are also seen when resting.  

Dystonia is known to occur more frequently in children with conditions such as cerebral palsy. Dystonia is generally related to a problem with a part of the brain called the ‘basal ganglia’. Sometimes it can be associated with injury to the brain. 

Dystonia can vary in severity from mild to severe. It can affect just one muscle or body part, or it can be generalised involving the whole body. It can be present alongside other movement problems such as muscle stiffness or weakness.

Signs and symptoms of dystonia

• Dystonia is recognised by repetitive twisting, or abnormal, body movements and postures.
• It is commonly seen when performing a task like playing, reaching for a toy, or talking, but can be seen when resting.
• It may be exaggerated by strong emotions like tiredness, worry or excitement.
• Dystonia can make everyday activities like getting dressed, walking, or using a knife and fork difficult.
• Severe dystonia can cause pain and discomfort.

What causes dystonia?

Dystonia commonly results from an acquired injury to the brain such as in children with cerebral palsy, after a stroke or with a metabolic condition. In children with a brain injury, dystonia may have a delayed onset of weeks to months after the injury. Dystonia may sometimes become more obvious over time. 

Less commonly, dystonia can occur in genetic conditions where there is no clear injury to the brain.

In rare cases, dystonia is a reaction to medications or symptom of an autoimmune condition. In these cases, dystonia will resolve after stopping the medication or treatment of the autoimmune condition.

How is dystonia diagnosed?

Your child’s paediatric specialist will ask for a description of your child’s movements or postures and the activities they have difficulty with. Video of the movements at rest and when your child is trying to move can be very helpful. The specialist may ask when the movements started, whether they change over the day, if there are any triggers (e.g., positioning or excitement) and which body parts are most affected.      

How is dystonia managed?

Positioning and other therapeutic techniques

Dystonia can be challenging to treat. As the child tries to control their body movements, the twisting and involuntary muscle contractions of dystonia may worsen. Therapy techniques that work well for other movement problems such as muscle stiffness or weakness, may not work for individuals with dystonia. Dystonia can be managed through avoiding triggers such as sitting or standing in particular ways, by managing mood and anxiety levels, or by adapting daily activities so they are easier to perform. Specific positioning and handling techniques can be helpful for some, and your child’s allied health therapists can assist in identifying strategies for your child.

Splints used to stabilise joints, minimise pain, and improve function can be useful and important in the management of dystonia. Some children will not tolerate rigid splints, so soft splints, including Lycra garments, may be worth trialing. 

Medications

If dystonia is causing pain or problems with your child’s day to day function, your doctor may prescribe various oral medications aiming to lessen the symptoms of dystonia. Your child may still have some symptoms of dystonia with these medications, but they will be more able to participate in their activities. It is helpful to have agreed goals before starting a new medication. Examples of goals may be improved sleep, self-care tasks like drinking from a cup or dressing, or reduced pain. These goals should be discussed with your child and doctor.

Some children may experience medication side effects including tiredness, confusion, drooling and floppiness. Most side effects can be managed by adjusting the dose of the oral medication. Please contact your doctor if you are worried about these side effects.

Another treatment for dystonia, particularly if the dystonia affects only a few body parts (e.g., arms or legs), is Botulinum Toxin-A injection. This treatment involves a series of injections into the affected muscles leading to reduced stiffness and pain. The effect of the injections lasts between three and six months. The treatment can be repeated if effective. The injections are given with nitrous or other sedation in younger children. 

Other treatments

Other treatments for dystonia include:

• Intrathecal Baclofen Therapy (ITB): Baclofen is a medicine that helps the muscles to relax. ITB is baclofen that is given into the space around the spinal cord, via a pump that is implanted under the skin of the abdomen. The pump has a catheter (tube) that goes to the fluid around the spinal cord to deliver the medication.
• Deep Brain Stimulation (DBS) may be recommended for certain types of more severe dystonia. It involves neurosurgical operation with insertion of wires deep in the brain and a battery device placed under the collarbone (under the skin). It uses an electrical current (stimulation) to change the abnormal brain signals causing the uncontrolled movements

Your child’s treating team will discuss the best treatment option with you and your child.

When to see a doctor

You should take your child to see a doctor if you are worried about your child showing uncontrolled movements that limit their daily activities, if their daily activities cause pain, or if you suspect that they may be suffering from dystonia.

Key points to remember

• Dystonia is a movement disorder which involves involuntary twisting and/or abnormal postures.
• Dystonia can be hard to treat. There are no treatments that can completely cure dystonia caused by an acquired brain injury or genetic condition
• Dystonia is diagnosed clinically. Videos of your child’s movements can be very helpful.
• See your doctor if you think your child has uncontrolled movements that cause pain or limit their ability to participate in daily activities.
• Dystonia can be managed by therapy and splints, oral medications, Botulinum toxin-A, Intrathecal Baclofen Therapy (ITB) or Deep Brain Stimulation (DBS).

For more information

• Kids Health Info fact sheet: Cerebral Palsy
• Kids Health Info fact sheet: Deep Brain Stimulation
• Kids Health info fact sheet: Intrathecal Baclofen
• The Royal Children’s Hospital Neurology Department
• The Royal Children’s Hospital Neurosurgery Department
• Victorian Paediatric Rehabilitation Service
• Victorian Paediatric Rehabilitation Service: Botulinum Toxin Injections

Common questions our doctors are asked

Developed by The Royal Children's Hospital Paediatric Rehabilitation Service. We acknowledge the input of RCH consumers and carers.

Reviewed May 2022. 

Kids Health Info is supported by The Royal Children’s Hospital Foundation. To donate, visit  www.rchfoundation.org.au.