Paroxysmal kinesigenic dyskinesia

=Paroxysmal Kinesigenic Dyskinesia = Paroxysmal Kinesigenic Dyskinesia (PKD) is a rare neurological disorder characterized by sudden, involuntary movements triggered by voluntary movements. These episodes are typically brief, lasting seconds to minutes, and are often precipitated by sudden movements or changes in position.

Clinical Features

PKD is marked by its distinctive clinical presentation:

• Onset: Typically occurs in childhood or adolescence.
• Duration of Episodes: Episodes last from a few seconds to a few minutes.
• Frequency: Can occur several times a day to several times a month.
• Triggers: Sudden voluntary movements, such as standing up or starting to walk.
• Symptoms: Involuntary movements can include dystonia, chorea, or a combination of both.

Diagnosis

Diagnosis of PKD is primarily clinical, based on the characteristic features of the episodes. However, it is important to rule out other causes of paroxysmal movement disorders. Diagnostic criteria often include:

• History and Physical Examination: Detailed history of the episodes and neurological examination.
• Exclusion of Other Disorders: Rule out other causes such as epilepsy or other types of paroxysmal dyskinesias.
• Genetic Testing: In some cases, genetic testing may be performed to identify mutations in the PRRT2 gene, which is associated with PKD.

Genetics

PKD is often associated with mutations in the PRRT2 gene. This gene is involved in synaptic function, and mutations can lead to the dysregulation of neuronal activity, resulting in the characteristic episodes of dyskinesia.

Treatment

Management of PKD focuses on reducing the frequency and severity of episodes:

• Medications: Antiepileptic drugs such as carbamazepine or phenytoin are often effective in reducing episodes.
• Lifestyle Modifications: Avoiding known triggers and stress management can help reduce the frequency of episodes.

Prognosis

The prognosis for individuals with PKD is generally good. Many patients experience a reduction in the frequency and severity of episodes with age, and some may even achieve complete remission.

See Also

• Paroxysmal nonkinesigenic dyskinesia
• Paroxysmal exercise-induced dyskinesia
• Dystonia

,

 Paroxysmal Kinesigenic Dyskinesia, 
 Movement Disorders, 
 2004, 
 Vol. 19(Issue: 3), 
 pp. 242 248, 
 DOI: 10.1002/mds.10667,

,

 Genetics of Movement Disorders, 
  
 Academic Press, 
 2015, 
  
  
 ISBN 9780128018933,

NIH genetic and rare disease info

• NIH info on Paroxysmal kinesigenic dyskinesia

Paroxysmal kinesigenic dyskinesia is a rare disease.