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  • dopa-responsive-dystonia
  1. About dystonia
  2. Types of dystonia
  3. Dopa-responsive dystonia

Dopa-responsive dystonia

Other names: DRD / Segawa’s dystonia / Segawa’s disease / DYT5 dystonia / Progressive hereditary dystonia

Type: Generalised

Dopa-responsive dystonia is a neurological movement disorder characterised by continuous or intermittent muscle contractions which cause abnormal, often painful, repetitive movements generally in the feet and legs. It is a broad term used to describe a rare but highly treatable form of genetic dystonia that typically responds to a medication called levodopa.

In many patients it starts with symptoms in the feet and legs but it may also extend to involve muscles of the arms and torso (trunk). In addition, dopa-responsive dystonia is typically characterised by signs of Parkinsonism that may be relatively subtle. Commonly, the symptoms will fluctuate and worsen as the day progresses. As such, this disorder has sometimes been referred to as ‘progressive hereditary dystonia’.

The most common form of dopa-responsive dystonia is often referred to as DYT5 dystonia.

Dopa-responsive dystonia should be diagnosed and treated by a neurologist specialising in movement disorders.

What are the symptoms?

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Symptoms of dopa-responsive dystonia include:

  • ‘stiff-legged’ way of walking
  • upward bending of the sole of the foot
  • turning of the foot outward at the ankle
  • toe walking
  • muscle spasms
  • tremor

The symptoms of Parkinsonism that may show include:

  • slowness of movement
  • stiffness and resistance to movement (rigidity)
  • balance difficulties
  • postural instability

Stress and anxiety are known to exacerbate the symptoms.

Published: 1st June, 2020

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Who does it affect?

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  • Between 30 – 40% of people who carry the gene will develop the condition.
  • Individuals with DYT5 dopa-responsive dystonia often have a parent who also has the faulty gene with or without symptoms.
  • It usually presents itself in childhood between the ages of 6 and 16.
  • It is 2 – 4 times more likely to affect girls than boys.

Published: 2nd June, 2020

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What are the causes?

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Dystonia is caused by incorrect signals from the brain to the affected body part.

Dopa-responsive dystonia is an inherited type of the condition caused by mutations in a specific gene. The gene abnormality causes a problem with the brain’s production of the chemical dopamine.

Published: 3rd June, 2020

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What are the common treatments?

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  • Oral medication (Levodopa)
  • Physiotherapy

Full physical functionality can typically be restored through the use of levodopa (Sinemet) for treatment. Physical therapy may be helpful if problems with walking have been identified or if shortening of the muscles occurred whilst dopa-responsive dystonia was uncontrolled.

Published: 4th June, 2020

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How will it affect my life?

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You may need to find ways to adapt and might have to learn new ways to complete everyday tasks. However, it is possible to live well with the condition and Dystonia UK is here to support you through all stages including initial onset, diagnosis, finding treatment and beyond.

As this form of dystonia may be genetic, some people find it helpful to speak to a genetic counsellor, regarding the genetic issues, and what this may mean for you and your family.

Published: 5th June, 2020

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You might also be interested in

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Published: 24th June, 2020

Updated: 2nd July, 2021

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