Dystonia

Dystonia

What is dystonia?

Dystonia is a group of neurological diseases that are characterised by involuntary movements due to spontaneous muscle contractions. The dystonic movements are twisting and uncontrollable, and they often look peculiar due to the simultaneous contractions of two muscles that counteract each other’s movements. This could be the biceps and triceps on the front and backside of the upper arm, which bend and stretch the arm, respectively. Usually, the muscle bending the arm will be relaxed when trying to stretch the arm and vice versa.

In a case of dystonia, both muscles work simultaneously which causes unusual positions. These movements are often repetitive, involuntary and persistent. They can be sudden, and they can occur in a single muscle, a group of muscles or in the entire body simultaneously. The unusual and frequent twisting movements can be very painful, and the impact of dystonia on a person’s everyday life can vary from barely noticeable to severely debilitating, and it can have great impact on the person’s private, emotional and professional life as well as the person’s feeling of freedom and independence.

 

What are the symptoms of dystonia?

The symptoms include the mentioned twisting movements, including:

  • Making faces

  • Pinched eyes

  • Twisting tongue movements

  • Writer’s cramp

  • Wry neck (torticollis)

 

People suffering from dystonia rarely experience all the mentioned involuntary movements. About 30 % experience torticollis, while 20 % experience involuntary squeezing/pinching of the eyes. Some people are also more affected by the symptoms than others as their movements are more frequent, last longer and are more significant.

 

What are the causes of dystonia?

Dystonia is caused by a disturbance in a small area of the brain called ‘basal ganglia’. The basal ganglia plays an important role in controlling, structuring and coordinating muscle movements to ensure correct execution of this movement – for example, the basal ganglia is a contributing factor to us being able to drink a glass of wine without spilling. Disturbances in this brain area will therefore often result in errors in the signalling between the brain and the muscles, causing unpleasant, unusual movements.

The disturbances in the basal ganglia can be due to family history if you have inherited genes causing dystonia from a parent. In these instances, the symptoms often begin during childhood or in the teenage years, and they gradually worsen as time passes. Here, the symptoms typically begin with a single muscle and then spreads to increasingly larger areas of the body.

Dystonia can also be a side-effect to medicine such as the drugs used to treat severe mental disorders, Parkinson’s disease and nausea. Dystonia can also occur in connection with many diseases, including cerebral palsy or Parkinson’s disease, but usually the cause is unknown.  

 

What are the treatments for dystonia?

Dystonia is very difficult to treat and therefore requires a specialist. There is no specific medical treatment that cures dystonia, but the symptoms can be relieved. If dystonia is caused by the medical treatment of a different disease, this treatment should be stopped, and alternative drugs should be used to treat the disease in question. If dystonia is caused by something else, it is possible to attempt to treat the disease with ‘botulinum toxin’. Botulinum toxin is also known as Botox ®, and it is a toxin which blocks nerve signals to the muscles. Because of this, the muscle becomes partially paralysed when it is injected with botulinum toxin as it blocks the signals from the nerves, telling it to contract.

The effect of botulinum toxin sets in within a week and subsides again after a couple of months. This type of treatment is especially suitable if the disease only involves a few muscles. If the person is suffering from a more generalised type of dystonia involving many muscles, deep brain stimulation can be used to attempt to treat the disease. In this treatment, electrodes are inserted into the basal ganglia in the brain, and they are then connected to a battery on the outside of the chest. This battery can send high frequency power into the brain, which then stimulates the cells. This changes the brain activity in the basal ganglia and reduces the uncontrollable movements. Moreover, physiotherapy is important to prevent the twisting movement from causing stiff joints due to muscle cramps.

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