Rare paroxysmal movement disorder

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Overview

Rare paroxysmal movement disorder is an umbrella term used to describe a group of uncommon neurological conditions in which a person experiences sudden, repeated episodes (called paroxysms) of abnormal involuntary movements. These episodes can include dystonia (sustained muscle contractions causing twisting postures), chorea (irregular, flowing movements), ballism (large flinging movements of the limbs), or a combination of these. Between episodes, the person may appear completely normal or have only mild symptoms. The episodes can be triggered by sudden voluntary movements, prolonged exercise, stress, caffeine, alcohol, fatigue, or they may occur without any clear trigger at all. This category includes several specific subtypes such as paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED), among others. Some forms are genetic and run in families, while others may occur sporadically. The age when symptoms first appear varies but is often in childhood or adolescence. Treatment depends on the specific subtype. Some forms respond very well to low doses of anticonvulsant medications such as carbamazepine, while others are more difficult to manage. Avoiding known triggers is an important part of daily management. Although these conditions can be disruptive and sometimes frightening, many people with paroxysmal movement disorders can lead full and active lives with proper diagnosis and treatment. Early and accurate diagnosis is important because these conditions can be mistaken for epilepsy or psychogenic disorders.

Key symptoms:

Sudden episodes of involuntary twisting or abnormal postures (dystonia)Irregular jerky or flowing movements of the arms and legs (chorea)Large flinging movements of the limbsEpisodes triggered by sudden movement or being startledEpisodes triggered by prolonged exercise or physical activityStiffening of muscles during an episodeDifficulty speaking during an episodeDifficulty walking or maintaining balance during an episodeEpisodes lasting seconds to hours depending on the typeNormal function between episodesTingling or unusual sensations before an episode starts (aura)Facial grimacing during episodesEpisodes worsened by stress, fatigue, or caffeine

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Rare paroxysmal movement disorder.

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No actively recruiting trials found for Rare paroxysmal movement disorder at this time.

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Search ClinicalTrials.gov ↗Join the Rare paroxysmal movement disorder community →

No specialists are currently listed for Rare paroxysmal movement disorder.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Rare paroxysmal movement disorder.

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Community

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Caregiver Resources

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Mental Health Support

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Family & Caregiver Grants

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What specific subtype of paroxysmal movement disorder do I or my child have?,Should we pursue genetic testing, and which genes should be tested?,What medications are most likely to help, and what are their side effects?,Are there specific triggers I should try to avoid?,Is this condition likely to improve with age?,Should other family members be tested or evaluated?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Rare paroxysmal movement disorder

What is Rare paroxysmal movement disorder?

Rare paroxysmal movement disorder is an umbrella term used to describe a group of uncommon neurological conditions in which a person experiences sudden, repeated episodes (called paroxysms) of abnormal involuntary movements. These episodes can include dystonia (sustained muscle contractions causing twisting postures), chorea (irregular, flowing movements), ballism (large flinging movements of the limbs), or a combination of these. Between episodes, the person may appear completely normal or have only mild symptoms. The episodes can be triggered by sudden voluntary movements, prolonged exercise