Paroxysmal Kinesigenic Dyskinesia: What It Is and How It Is Treated

Written by Medicover Team and Medically Reviewed by Dr Krishna Haskar Dhanyamraju , Neurologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Paroxysmal Kinesigenic Dyskinesia (PKD) is a rare neurological movement disorder that causes sudden, brief episodes of abnormal involuntary movements triggered by sudden movements or changes in position. These episodes can affect daily activities and quality of life because they occur unpredictably.

The episodes may involve twisting, jerking, or abnormal postures of the arms, legs, or face. People are generally conscious during episodes and usually return to normal between attacks. With appropriate diagnosis and treatment, PKD can often be effectively managed.

What are the Types of Paroxysmal Kinesigenic Dyskinesia?

Paroxysmal Kinesigenic Dyskinesia is generally classified according to its clinical presentation, age of onset, and whether it occurs as an inherited or non-inherited condition.

Typical Paroxysmal Kinesigenic Dyskinesia: Characterized by brief episodes of abnormal involuntary movements triggered by sudden movements or changes in position.
Atypical Paroxysmal Kinesigenic Dyskinesia: May have features that differ from the typical presentation, including less predictable triggers or longer episodes.
Infantile-Onset PKD: Symptoms begin during infancy or early childhood and may be triggered by movement or excitement.
Adult-Onset PKD: Symptoms begin during adulthood and may cause sudden, brief episodes of abnormal movements following specific movements.
Familial PKD: An inherited form associated with a family history of similar movement episodes, commonly related to genetic changes such as variants in the PRRT2 gene.

What are the Symptoms of Paroxysmal Kinesigenic Dyskinesia?

Paroxysmal Kinesigenic Dyskinesia causes sudden, brief episodes of abnormal involuntary movements. Episodes are typically triggered by sudden movement or a change in body position and may vary in frequency and severity.

Sudden, brief episodes of abnormal involuntary movements
Muscle jerking, twisting, or abnormal postures triggered by sudden movement
Involuntary movements affecting the arms, legs, trunk, or face
Episodes that may occur several times a day
Symptoms that commonly begin during childhood or adolescence
No loss of consciousness during episodes
Normal movement and neurological function between episodes

What are the Causes of Paroxysmal Kinesigenic Dyskinesia?

The exact cause of Paroxysmal Kinesigenic Dyskinesia is not fully understood. Many cases are associated with genetic changes that affect the brain's regulation of movement. Changes in the PRRT2 gene are a common genetic cause of familial PKD.

Some individuals may develop PKD without a known family history. Sudden movements are the characteristic trigger for attacks, while stress and fatigue may make episodes more likely in some people.

Genetic mutations: Changes in genes such as PRRT2 can cause inherited forms of PKD.
Family history: Having relatives with PKD or related movement disorders can increase the likelihood of developing the condition.
Abnormal movement-control pathways: Altered signaling in brain regions responsible for coordinating movement may contribute to episodes.
Sudden movements: Rapid changes in movement or position are the characteristic trigger for PKD episodes.
Stress or fatigue: These factors may increase the likelihood of episodes in some individuals.

When to See a Doctor?

Consult a neurologist if you experience sudden or recurrent episodes of involuntary movements, particularly when they are triggered by sudden movement or changes in position. Early evaluation can help distinguish PKD from seizures and other movement disorders.

Brief, repeated episodes of abnormal movements triggered by sudden motion
Muscle jerks, twisting, or unusual postures affecting daily activities
Episodes that begin during childhood or adolescence and occur repeatedly
Movements that interfere with walking, exercise, work, school, or other activities

Get medical help immediately if:

Episodes are prolonged or cause significant difficulty moving or staying safe
New weakness, loss of coordination, or other neurological symptoms develop
There is a sudden and significant increase in the frequency or severity of episodes

These symptoms may indicate another neurological condition or a complication requiring urgent evaluation.

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How Is Paroxysmal Kinesigenic Dyskinesia Diagnosed?

Diagnosing Paroxysmal Kinesigenic Dyskinesia involves reviewing the pattern, duration, and triggers of episodes and performing a neurological examination. Because episodes are brief and may not occur during a clinical visit, a detailed description or video recording can be helpful.

Medical history: Assessment of episode frequency, duration, triggers, age of onset, and family history
Neurological examination: Evaluation of movement, coordination, muscle strength, reflexes, and other neurological functions
Genetic testing: May be recommended when familial PKD is suspected, particularly to identify PRRT2-related disease
MRI scan: May be performed to rule out structural abnormalities or other neurological conditions when clinically indicated
EEG: May be used when seizures are suspected to distinguish PKD from epilepsy
Video recording: A recording of an episode can help the neurologist assess the characteristic movements and triggers

Accurate diagnosis is important because PKD can resemble epileptic seizures or other movement disorders, but its treatment and management are different.

What are the Treatment Options for Paroxysmal Kinesigenic Dyskinesia?

Treatment for Paroxysmal Kinesigenic Dyskinesia focuses on reducing the frequency and severity of episodes. Many individuals respond well to appropriate medication, particularly when treatment is started after an accurate diagnosis.

Anticonvulsant medications: Medicines such as carbamazepine or oxcarbazepine are commonly used and can significantly reduce or prevent episodes in many patients.
Lifestyle modifications: Identifying and avoiding individual triggers, maintaining adequate sleep, and managing stress may help reduce episodes.
Physical therapy: May help individuals who experience functional difficulties or movement-related limitations.
Regular neurological follow-up: Follow-up visits help monitor treatment response and adjust medication when necessary.
Deep brain stimulation: Rarely considered in severe, treatment-resistant cases when appropriate specialist evaluation indicates it may be beneficial.

Most people with PKD can achieve good symptom control with appropriate treatment. The treatment plan should be individualized according to the frequency and severity of episodes and the person's overall health.

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Frequently Asked Questions

1. What is Paroxysmal Kinesigenic Dyskinesia (PKD)?

Paroxysmal Kinesigenic Dyskinesia is a rare neurological disorder characterized by sudden, brief episodes of abnormal involuntary movements triggered by sudden movements or changes in position.

2. What are the symptoms of Paroxysmal Kinesigenic Dyskinesia?

Symptoms of PKD include episodes of dystonia, chorea, or both, typically lasting seconds to minutes and resolving spontaneously.

3. How is Paroxysmal Kinesigenic Dyskinesia diagnosed?

Diagnosis of PKD involves a thorough medical history, neurological examination, and may include genetic testing to confirm specific gene mutations associated with the disorder.