What is dystonia?

Last updated 27 September 2022

Dystonia is a neurological disorder impacting the body’s movement through involuntary muscle contractions.

Key points

Dystonia is a neurological disorder that causes muscle contractions and spasms
There are multiple types of dystonia, including hereditary and non-hereditary, with some types of dystonia linked to other disabilities
Treatments are available to manage symptoms, but there is no cure

Causing abnormal muscle movements, muscle tremors and unnatural body postures, dystonia may affect just one muscle or several regions of the body.

There are several types of dystonia, with dystonia an umbrella term for numerous variations of the disorder.

It may be a standalone disorder or linked to other comorbidities. Due to a range of causes, including genetic and non-genetic triggers, the severity and duration of dystonia varies from person to person. Treatment is also possible, depending on the cause.

Causes of dystonia

Dystonia can be hereditary and non-hereditary, while there are random occurrences of dystonia with no explainable cause. However, it is believed to involve a breakdown or change in communication between nerve cells within the brain.

Research has found that several genes are connected to different types of dystonia, however, there is no definitive understanding of the genetic nature of the disorder.

For example, only one parent has to carry a dystonia gene for it to be inherited, but that specific gene may remain dormant with no symptoms ever developing.

Inherited dystonias include early onset, myoclonus-dystonia and rapid-onset dystonia-parkinsonism.

Brain injury, stroke and nervous system damage may also result in the onset of dystonia. It is often linked to other comorbidities such as Parkinson’s disease or Huntington’s disease.

Viral infections, such as meningitis and encephalitis, may trigger types of dystonia if inflammation restricts blood flow to parts of the brain, like the basal ganglia. The basal ganglia is the part of the brain responsible for learning and controlling body movements.

You may also develop dystonia due to a negative reaction to medication or as a result from repetitive motions, such as focal hand dystonia which often impacts musicians or writers.

What are the symptoms of dystonia?

The signs and symptoms of dystonia will vary, however, in most cases there is abnormal posturing, torsion and/or muscle spasms.

Dystonia symptoms include:

Neck contractions and twisting
Vision impairment due to rapid blinking and eyelid spasms
Slurred speech of difficulty swallowing due to jaw or tongue contractions
Difficulty speaking
Hand or forearm contractions and spasms
Mobility issues due to leg muscle contractions

You often find that limbs will sit at an odd angle due to muscle contractions, resulting in ongoing pain and cramping. Trembling and uncontrolled restlessness may also develop into recurring muscle spasms.

Dystonia often develops gradually, meaning you may not be able to lift your head all the way up, or a wrist may not have full range of motion.

Childhood and early onset dystonia typically leads to an increased severity of symptoms as there is a natural progression of severity. An example of childhood dystonia is dyskinetic cerebral palsy.

Depending on the body part affected, there will be a loss of muscle coordination meaning you may drop objects more frequently or struggle to move around comfortably.

Secondary side effects include exhaustion, mood swings and disrupted sleeping patterns. Depression and anxiety is typically recognised as a secondary symptom of dystonia in people affected by the disorder.

Classifications of dystonia

Standalone dystonias are classified as ‘primary dystonia’ when there are no associated disorders or causes.

Secondary dystonia, also referred to as combined dystonia, occurs when there is a triggering injury or overarching disorder, such as Parkinson’s disease.

Dystonia is classified using several clinical features, including what parts of the body are affected, age of onset, temporal pattern and any other associated features.

In terms of body distribution, dystonia is classified in several ways, including:

Focal – an isolated muscle or body part
Segmental – several muscles or adjacent body areas
Multifocal – multiple muscles or body areas that are not connected
Generalised – a large part of the body, such as the torso and other regions
Hemidystonia – one side of the body is affected

There are also four temporal patterns of classification, including:

Persistent – symptoms persist without stopping
Task-specific – repetitive actions or tasks trigger symptoms
Diurnal – symptoms fluctuate throughout the day
Paroxysmal – symptoms are sporadic and often caused by a non task-specific trigger

Diagnosing and managing dystonia

If you are experiencing recurring or prolonged muscle spasms or contractions there are several ways to diagnose dystonia.

Your General Practitioner may refer you to a movement disorder specialist or neurologist, who can perform several important tests.

Diagnostic tools include blood tests, genetic testing, magnetic resonance imaging (MRI), electromyography (EMG) and nerve conduction studies (NCS). It is possible that a diagnosis may not reveal the cause of dystonia.

Treatments are available for some dystonias, although there is no cure. The severity of symptoms can vary considerably from person to person.

For some the symptoms may plateau, or even improve with treatment. For others, they may progressively worsen into a more severe disability. Risk factors increase for people with neurodegenerative or degenerative comorbidities.

Potential treatments and managements include medicinal blockers to help relax muscles and stop contractions or complementary therapies such as physiotherapy and speech pathology.

Deep brain stimulation has also been used to treat dystonia, using electrical impulses in the brain to block tremors and contractions. As a more severe option, it may not be suitable for everyone.

Accessing the NDIS and support services

Dystonia on its own may not qualify for National Disability Insurance Scheme (NDIS) support. Prolonged symptoms and movement impairments are more likely to be accepted conditions by the NDIS.

You can learn more about accessing the NDIS with our article, ‘Am I eligible for the NDIS?’.

Secondary dystonia linked to Huntington’s disease or Parkinson’s disease is likely to meet NDIS eligibility requirements, as would dyskinetic cerebral palsy.

Early interventions are also available for children under six with movement or speech disorders.

Disability support is also available for people who may not be eligible for the NDIS or unsuccessful when applying for NDIS support.

Also look for local dystonia support groups who can provide additional information and contacts.

Have you or a family member been diagnosed with dystonia? Let us know about your experience in the comments below.