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Disease Profile
Paroxysomal nonkinesigenic dyskinesia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
G24.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
DYT-MR-1
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
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
Symptoms
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.
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 | ||
0000006 | ||
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Difficulty articulating speech
|
0001260 | |
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 |
0002268 |
Related diseases
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
|
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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.
|
Organizations
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
-
Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 1730
Chicago, IL 60601-1905
Toll-free: 1-0800-377-3978
Telephone: +1-312-755-0198
Fax: +1-312-803-0138
E-mail: [email protected]
Website: https://dystonia-foundation.org/
Learn more
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
- Unterberger I, Trinka E. Review: Diagnosis and Treatment of Paroxysmal Dyskinesias Revisited. Ther Adv Neurol Disorders. 2008;1(2):67-74.
References
- Familial paroxysmal nonkinesigenic dyskinesia. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition=familialparoxysmalnonkinesigenicdyskinesia. Accessed 11/24/2008.
- Spacey S, Adams P. Familial Paroxysmal Nonkinesigenic Dyskinesia. GeneReviews. May 3, 2011; https://www.ncbi.nlm.nih.gov/books/NBK1221/.
- Dr Sian SPACEY. Paroxysmal non-kinesigenic dyskinesia. Orphanet. November 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810.