What is Dystonia

Dystonia is a movement disorder characterised by sustained (constant) or intermittent (irregular) muscle contractions (spasms) causing abnormal, often repetitive movements, postures (positions), or both. Dystonic movements are typically patterned, twisting, and may be tremulous (resembling a tremor). Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. More info here What is Dystonia.

Symptoms may be due to the Basal Ganglia or other areas of the brain that control movement. Neurotransmitters may send signals to muscles to cause them to be overactive. More information  here → Causes of Dystonia.

Dystonia can be genetic or result from other health conditions such as stroke, physical trauma, or as a side effect to certain medications. If the only sign or symptoms is Dystonia it is usually known as idiopathic or primary Dystonia. There are different forms of Dystonia which is explained in more detail on ourTypes of Dystonia’ page. To learn more about Dystonia and Genetics click the following link → Genetics.

How is it Classified?

Dystonia is classified by looking at clinical features or appearance, such as the age it started, which area of the body is affected, if it progresses or remains unchanged and considering if there is an underlying cause or the possibility it is inherited.

Over the years more has been learnt about Dystonia and the clinical symptoms. Additionally, a classification and definition system has been implemented. Based on the international consensus committee or panel a revision was proposed. Terms such as ‘primary’ Dystonia was used to refer to idiopathic dystonia, but the following more clear terms were suggested. 

  • Isolated dystonia. Dystonia is the only motor feature, with the exception of tremor
  • Combined dystonia. Dystonia is combined with other movement disorders (such as myoclonus, parkinsonism, etc.)

Isolated dystonia encompasses many cases previously described as “pure” or “primary”, whereas most patients previously classified under “dystonia plus” or “heredodegenerative” would now be classified as having combined dystonia. More information here → Phenomenology and classification of dystonia: a consensus update.

Prevalence in Australia

There is no epidemiological data from Australia or a lack of research on the number of Australians who have Dystonia. There are estimations from overseas research or population. 

Related information: Epidemiology of primary dystonia (2004) and Dystonia: diagnosis and management (2018).

History of Dystonia

In 1911 Hermann Openhein a German Neurologist invented the term “dystonia musculorum deforums”.

Polish Neurologists, Flatau and Sterling disagreed with the term “musculorum” because they believed that it was just not a muscle condition. Not all became deformed and they considered the genetic nature of the condition. They preferred the term “progressive torsion spasm”.  

Dystonia comes from modern Latin word dys and Greek word tonos (meaning tension).

A brief history of Dystonia and unmet needs in a field that is evolving very fast here → Unmet Needs in Dystonia PDF or EPUB.

Related information
Translation of Oppenheim’s 1911 paper on dystonia
Evolution of the concept of dystonia
A History of Dystonia: Ancient to Modern
Nature Reviews Fig. 1: History of dystonia

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