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Familial paroxysmal dystonia

A hereditary autosomal dominant neurologic condition that is the most common type of paroxysmal movement disorder and is often misdiagnosed as epilepsy. It characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. Onset is usually during childhood or early adulthood and can involve dystonic postures, CHOREA, or ATHETOSIS. The condition improves with age and responds favorably to ANTICONVULSANT AGENTS such as CARBAMAZEPINE or PHENYTOIN. Mutations in the PRRT2 gene have been identified. OMIM: 128200
Also Known As:
Dystonia 10; Dystonia, familial paroxysmal; EKD1; Episodic Kinesigenic Dyskinesia 1; Familial Paroxysmal Kinesigenic Dyskinesia; Paroxysmal Kinesigenic Dyskinesia; Paroxysmal kinesigenic choreoathetosis
Networked: 108 relevant articles (7 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Seizures (Absence Seizure)
2. Channelopathies
3. Hypoparathyroidism
4. Hypocalcemia
5. Epilepsy (Aura)

Experts

1. Wu, Zhi-Ying: 4 articles (01/2022 - 04/2013)
2. Li, Hong-Fu: 3 articles (01/2022 - 04/2013)
3. Benfenati, Fabio: 3 articles (01/2021 - 01/2018)
4. Corradi, Anna: 3 articles (01/2021 - 01/2018)
5. Valente, Pierluigi: 3 articles (01/2021 - 01/2018)
6. Cao, Li: 3 articles (01/2020 - 01/2018)
7. Chen, Sheng-Di: 3 articles (01/2020 - 01/2018)
8. Huang, Xiao-Jun: 3 articles (01/2020 - 01/2018)
9. Liu, Xiao-Li: 3 articles (01/2020 - 01/2018)
10. Tian, Wo-Tu: 3 articles (01/2020 - 01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial paroxysmal dystonia:
1. Anticonvulsants (Antiepileptic Drugs)IBA
2. Carbamazepine (Tegretol)FDA LinkGeneric
3. human PRRT2 proteinIBA
11/11/2023 - "A total of 51 paroxysmal kinesigenic dyskinesia patients possessing proline-rich transmembrane protein 2 mutations, 55 paroxysmal kinesigenic dyskinesia patients possessing proline-rich transmembrane protein 2 non-mutation, and 80 healthy controls participated in the study. "
08/01/2018 - "Recent studies showed that the cause of paroxysmal kinesigenic dyskinesia or infantile convulsions and choreoathetosis could be proline-rich transmembrane protein 2 (PRRT2) gene mutations. "
11/11/2023 - "These results show that proline-rich transmembrane protein 2 related gray matter network deficits may contribute to paroxysmal kinesigenic dyskinesia, offering new insights into its pathophysiological mechanisms."
11/11/2023 - "Finally, we used support vector machine by gray matter network matrices to classify paroxysmal kinesigenic dyskinesia patients possessing proline-rich transmembrane protein 2 mutations and paroxysmal kinesigenic dyskinesia patients possessing proline-rich transmembrane protein 2 non-mutation, achieving an accuracy of 73%. "
11/11/2023 - "Relative to healthy controls, both patient groups showed reduced nodal metrics in right postcentral gyrus, right angular, and bilateral thalamus; Relative to healthy controls and paroxysmal kinesigenic dyskinesia patients possessing proline-rich transmembrane protein 2 non-mutation, paroxysmal kinesigenic dyskinesia patients possessing proline-rich transmembrane protein 2 mutations showed almost all reduced nodal centralities and structural connections in cortico-basal ganglia-thalamo-cortical circuit including bilateral supplementary motor area, bilateral pallidum, and right caudate nucleus. "
4. Proteins (Proteins, Gene)FDA Link
5. Oxcarbazepine (Trileptal)FDA LinkGeneric
6. Pregabalin (Lyrica)FDA Link
7. Voltage-Gated Sodium ChannelsIBA
8. Proline (L-Proline)FDA Link
9. LacosamideFDA Link
10. IronIBA

Therapies and Procedures

1. Thyroidectomy
2. Therapeutics
3. Transcranial Magnetic Stimulation