Dystonia

What is the aim of the leaflet? Who is this leaflet for?

This leaflet is for parents and carers of children affected by dystonia. The aim is to explain what dystonia is, what it looks like and how we can support children affected by dystonia.

What is dystonia?

Dystonia is a movement disorder that causes changing muscle tone resulting in involuntary uncontrolled muscle contractions. These can cause intermittent painful spasm-like twisting, cramping, writhing movements or abnormal postures. Dystonia can also just affect one muscle group, in which case it may show up as a painful limb e.g. a foot, leg, hand or arm that has twisted. It can affect speech, swallowing, the neck, torso and sometimes even the whole body.

Is dystonia common?

Dystonia is one of the most commonly observed movement disorders seen in both adults and children.

What causes dystonia?

Dystonia is related to a problem in a part of the brain called the basal ganglia. This is the area responsible for initiating muscle contractions. The problem may be caused by decreased oxygen supply to the brain, infection, an autoimmune disease, metabolic disorder, stroke, toxin or medications. It can be inherited or acquired. The most common cause of dystonia amongst children is cerebral palsy due to damage to the developing brain affecting the basal ganglia. These children have trouble controlling muscle movement.

What are the signs suggesting your child has dystonia?

The age of onset of dystonia in children can vary. Most children present with recurrent spasms of a body part that is flexed or twisted into an abnormal position. This movement, which is involuntary, may be repetitive and patterned, and may sometimes resemble a tremor. Children can also experience stiffness, twisting, writhing, abnormal posturing, back arching, and pain as well as changes in the sound of their voice and their breathing pattern.

The stiffness and posturing is often intermittent, variable and less obvious when the child is relaxed. At times the tone may appear normal. Severity can vary from day to day. Dystonia is different to spasticity where the muscle stiffness is more constant.

How is dystonia diagnosed?

Dystonia is diagnosed by watching the pattern of movement and posturing. Speak to your doctors if you are concerned about your child. They will take a medical history and carry out a physical examination. They may also undertake further investigations including blood and urine tests, imaging of the brain, and genetic studies. Depending on the presentation of your child, further assessments may be required. A study of spinal fluid may be considered. Nerve conduction studies and a formal eye examination may also help with the diagnosis.

How do we take care of children affected by dystonia?

Identifying and treating factors that cause the dystonia is an important part of treatment. Majority of cases are managed in this way. Avoiding triggers is important. This includes alleviating boredom, pain, discomfort, hunger or constipation. Ensuring comfortable, supported seating and a good night’s sleep with or without medication helps tremendously.

Medication is only partially effective in controlling dystonia and has to be used with expertise and care. Your child may be given regular oral medication which is intended to relieve muscle spasms, pain and discomfort. All medications may have side effects, which will be discussed with you. In cases where oral medications do not improve symptoms, Botox injections and surgery may be considered.

Children who have sudden worsening of their dystonia may have difficulty sleeping, feeding or lying down and this will require urgent medical assessment and escalation of treatment. Some children may present with symptoms of the severest form of dystonia, which is called ‘status dystonicus’. This requires urgent management in hospital, sometimes even intensive care. All children with moderate / severe dystonia should have an escalation plan for times when they may have acute worsening of their condition. If your paediatrician is unsure where to access this, they can contact the regional neurologist, and we have a handy downloadable guide to this. We have found it’s a really good thing for families to keep at home so that they can show a copy to other professionals – such as specialist nurses and GPs – in case it is needed if the child’s condition deteriorates.

If the child requires admission to hospice or hospital, they should have all their usual equipment with them, for example their chair or sleep system. Feeds should be continued either orally or via a nasogastric tube if needed as these children need adequate nutrition and fluid intake. There should be a care plan in place which gives clear guidance about increasing the dosage of normal drugs and the use of emergency drugs.

What does this mean for my child's future?

Children with dystonia vary in their presentation, severity and prognosis. The majority of children are mildly affected. The dystonia may have little or no impact on daily activities and the child is stable on medications. Very few children show less response to medication. Ensuring all the necessary preventive measures are in place helps their management. The severity of dystonia often guides the outcome.

Useful organisations / references

• Click here for Children's dystonia Information (opens in a new tab)
• Click here for dystonia website (opens in a new tab)

Dystonia Guideline 2020 Addenbrookes ( Staff to check the available guideline on Merlin )