Dystonia

Dystonia is a neurological movement disorder characterised by involuntary muscle contractions that cause repetitive, twisting, and abnormal movements or postures.

Causes of Dystonia

The exact cause of dystonia is not always clear, and it can be classified into several categories based on its aetiology:

Primary Dystonia: In primary dystonia, there is no identifiable underlying cause, and it is believed to be primarily genetic. It can run in families and often starts in childhood or adolescence.

Secondary Dystonia: Secondary dystonia is caused by an underlying medical condition or environmental factors. Common causes include:

  • Trauma: Head injuries or damage to the basal ganglia, which is a brain structure involved in motor control.
  • Medications: Some drugs can induce dystonia as a side effect.
  • Infections: Certain infections, such as encephalitis, can trigger dystonia.
  • Toxins: Exposure to toxins or heavy metals can lead to dystonia.
  • Neurodegenerative Diseases: Conditions like Parkinson’s disease or Wilson’s disease can cause dystonia.
  • Cerebral Palsy: Dystonia can be associated with cerebral palsy, a condition that affects movement and posture.

Symptoms of Dystonia

Dystonia can affect any part of the body and vary in severity. Common symptoms include:

  • Muscle Contractions: Involuntary and sustained muscle contractions that cause twisting or repetitive movements. These contractions may be intermittent or continuous.
  • Abnormal Postures: Affected body parts may assume abnormal and sometimes painful postures. For example, the head may turn or tilt involuntarily (torticollis), or the hands may clench into fists.
  • Tremor: Some individuals with dystonia may also experience tremors, although these are usually different from essential tremors or Parkinson’s disease tremors.
  • Pain: Chronic pain is common in dystonia due to the sustained muscle contractions and abnormal postures.
  • Functional Impairment: Dystonia can significantly affect a person’s ability to perform daily tasks and lead to disability.

Treatment Options for Dystonia

Treatment for dystonia focuses on symptom management, improving function, and enhancing quality of life. The choice of treatment depends on the type and severity of dystonia:
  • Botulinum Toxin (Botox) Injections: Botulinum toxin injections can help reduce muscle contractions and improve symptoms in localised dystonias.
  • Oral Medications: Certain medications, such as anticholinergics, muscle relaxants, and dopamine-modulating drugs, may be prescribed to manage symptoms.
This involves surgically implanting electrodes into specific brain regions to modulate abnormal neural activity. It is typically reserved for severe cases of dystonia that do not respond to other treatments.

Physical therapy can help individuals with dystonia improve posture, muscle strength, and range of motion.

Occupational therapists can assist in finding adaptive strategies for performing daily activities.

Selective peripheral denervation or myectomy may be considered for some forms of dystonia, particularly when it affects specific muscle groups.

Stress management techniques, regular exercise, and adequate sleep can help manage symptoms and improve overall well-being.

Joining support groups and seeking psychological counselling can provide emotional support and help individuals cope with the challenges of living with dystonia.

It is important to note that the effectiveness of treatments can vary among individuals, and there may be a need for ongoing adjustments to the treatment plan. Additionally, ongoing research is being conducted to better understand the underlying mechanisms of dystonia and develop more targeted therapies. Early diagnosis and intervention can lead to better outcomes and improved quality of life for individuals with dystonia.

If you have Dystonia and you are looking for options to improve your quality of life, please make an appointment with Dr Bolitho for an examination.

Get In Touch

Dr Samuel Bolitho is a Sydney Neurologist with sub-specialised training in movement disorders, essential tremor and Parkinson’s Disease. He brings a rare mx of medical, neurological and computational neuroscience expertise to his role, as well as a wealth of experience in biomedical engineering.