National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Paroxysomal nonkinesigenic dyskinesia


Other Names:
DYT-MR-1
Categories:
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb.[1][2] Symptoms usually last between 1 and 4 hours.[1] The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement.  The familial form is caused by mutations in the PNKD gene and is inherited in an autosomal dominant pattern.[1][2] Treatment might involve the use of antiseizure medications such as Clonazepam and avoidance of triggers.[3]
Last updated: 6/21/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Paroxysmal dyskinesia 0007166
30%-79% of people have these symptoms
Choreoathetosis 0001266
Hyperkinetic movements
Muscle spasms
0002487
5%-29% of people have these symptoms
Dyskinesia
Disorder of involuntary muscle movements
0100660
Dyspnea
Trouble breathing
0002094
Generalized muscle weakness 0003324
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Rigidity
Muscle rigidity
0002063
Staring gaze 0025401
Torticollis
Wry neck
0000473
Trismus
Lockjaw
0000211
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Childhood onset
Symptoms begin in childhood
0011463
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Facial grimacing 0000273
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Myokymia 0002411
Paroxysmal choreoathetosis 0007098
Paroxysmal dystonia 0002268
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis of PNKD includes: Wilson disease, paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions and choreoathetosis (ICCA syndrome), paroxysmal exertion-induced dyskinesia (PED), autosomal dominant nocturnal frontal lobe epilepsy, paroxysmal dystonic choreathetosis with episodic ataxia and spasticity, and Huntington disease (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Paroxysomal nonkinesigenic dyskinesia. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Paroxysomal nonkinesigenic dyskinesia. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Can you help me find information on the diagnosis of secondary (non-genetic) paroxysmal nonkinesigenic dyskinesia? See answer


  1. Familial paroxysmal nonkinesigenic dyskinesia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=familialparoxysmalnonkinesigenicdyskinesia. Accessed 11/24/2008.
  2. Spacey S, Adams P. Familial Paroxysmal Nonkinesigenic Dyskinesia. GeneReviews. May 3, 2011; https://www.ncbi.nlm.nih.gov/books/NBK1221/.
  3. Dr Sian SPACEY. Paroxysmal non-kinesigenic dyskinesia. Orphanet. November 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810.