Paroxysmal describes sudden, brief and repeated episodes, while dyskinesia refers to involuntary, erratic movements.

Paroxysmal dyskinesia (PD) is a group of movement disorders characterised by episodes of involuntary movements. These movements can include uncontrolled muscle contractions, tremor, abnormal postures, and jerky movements that appear similar to dancing or fidgeting.

The duration and frequency of episodes vary between individuals and may last from seconds to hours. Individuals usually remain conscious and do not experience pain during an episode. Symptoms of PD often begin in childhood or adolescence and may improve with age.

PD can be divided into different types depending on the triggers of the episodes:

• Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of PD and is usually triggered by sudden movement from rest such as standing up from a chair, starting to run or exercise, or getting on or off a car.
• Paroxysmal non-kinesigenic dyskinesia (PNKD)usually occur spontaneously and may be triggered by caffeine and alcohol consumption.
• Paroxysmal exertion-induced dyskinesia (PED) is triggered by prolonged physical exercise.
• Paroxysmal hypnogenic dyskinesia (PHD) usually occurs during sleep.

PD episodes are more likely to be triggered under emotional stress, fatigue, being startled, and sound or light stimulation.

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms: Paroxysmal choreoathetosis, Paroxysmal dystonic choreoathetosis.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:1431 Paroxysmal dyskinesia

ORPHA:98809 Paroxysmal kinesigenic dyskinesia

ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia

ORPHA:98811 Paroxysmal exertion-induced dyskinesia

ORPHA:98812 Paroxysmal hypnogenic dyskinesia

ICD-11: EE01.0 Hypohidrosis attributable to defective sudomotor innervation or function

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Paroxysmal dyskinesia may have a genetic cause or may result from an underlying disorder or injury affecting the nervous system. In some individuals, no specific cause can be identified.

Genetic changes in certain genes have been identified to cause certain types of PD. These genes include PRRT2, MR-1, KCNMA1, and SLC2A1 genes. These genetic variants may be inherited from a parent or may arise spontaneously in an individual.

In individuals who do not have a disease-causing genetic variant, PD may develop as a result of an injury, brain trauma, surgery or medical procedures, or an underlying medical condition.

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities. For many rare diseases, treatment options may be limited. Participation in a clinical trial may provide access to new or emerging therapies.

Healthcare professionals involved in the care of paroxysmal dyskinesia may include general practitioners (GP), neurologists, physiotherapists, occupational therapists, genetic counsellors, and geneticists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

This may not be applicable to all rare diseases but for many, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China published in 2021.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

We are not aware of any rare disease organisations for paroxysmal dyskinesia in Australia or internationally. If you know of any rare disease organisation/s, please let us know via the Contribute page. If you are interested in starting an Australian organisation, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Paroxysmal dyskinesia varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on paroxysmal dyskinesia can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Paroxysmal dyskinesia
• National Organization for Rare Disorders (NORD): Paroxysmal dyskinesia

Orphanet: Paroxysmal dyskinesia

Human Phenotype Ontology (HPO): Paroxysmal dyskinesia

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.