Overview
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity is a very rare neurological condition that causes sudden, unpredictable episodes of abnormal movements and coordination problems. It is also sometimes called by its initials or grouped under the broader category of paroxysmal movement disorders. The condition affects the nervous system in a way that causes the body to produce involuntary, twisting, or writhing movements (called dystonia and choreathetosis) that come and go in episodes. During these episodes, a person may also experience poor balance and coordination (ataxia), making it hard to walk or perform everyday tasks. Between episodes, some people have ongoing muscle stiffness (spasticity). Episodes can be triggered by things like stress, fatigue, caffeine, or sudden movement, and they can last from minutes to hours. The condition typically begins in childhood or early adulthood. While it is not life-threatening in most cases, it can significantly affect quality of life, school performance, and independence. Treatment focuses on reducing the frequency and severity of episodes, often using medications such as anticonvulsants or other drugs that calm abnormal nerve signals. With the right management, many people are able to reduce how often episodes occur and live more comfortably.
Also known as:
Key symptoms:
Sudden episodes of involuntary twisting or writhing movementsUncontrolled, dance-like movements of the arms and legsLoss of balance and coordination during episodesMuscle stiffness (spasticity) that may be present between episodesEpisodes that can last from a few minutes to several hoursDifficulty walking or standing during an episodeSlurred speech during episodesEpisodes triggered by stress, fatigue, or sudden movementNormal or near-normal neurological function between episodes in some patients
Clinical phenotype terms (13)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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.Which gene or genes should be tested to confirm my diagnosis, and what does the result mean for my family?,What medications are most likely to help reduce my episodes, and what are the side effects?,Should I try a ketogenic diet, and is GLUT1 deficiency suspected in my case?,What triggers should I avoid, and how can I identify my personal triggers?,Are there any clinical trials or research studies I could participate in?,What should I do — or what should my family do — if I have a severe or prolonged episode?,How is this condition likely to change over time, and what can I do now to protect my long-term health?
Common questions about Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
What is Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity?
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity is a very rare neurological condition that causes sudden, unpredictable episodes of abnormal movements and coordination problems. It is also sometimes called by its initials or grouped under the broader category of paroxysmal movement disorders. The condition affects the nervous system in a way that causes the body to produce involuntary, twisting, or writhing movements (called dystonia and choreathetosis) that come and go in episodes. During these episodes, a person may also experience poor balance and coordination (ataxia
How is Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity inherited?
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity typically begin?
Typical onset of Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity is childhood. Age of onset can vary across affected individuals.