Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

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ORPHA:500180OMIM:617672G31.8
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Overview

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder is a rare brain condition that causes children to lose skills they had already learned. 'Regression' means going backward — a child who could walk, talk, or think clearly may gradually lose those abilities over time. The disease also causes extrapyramidal movement problems, which means abnormal, involuntary movements such as stiffness, slow movements, tremors, or twisting postures that the child cannot control. These movement problems come from changes in the deep parts of the brain that normally help coordinate motion. The condition typically begins in childhood, after a period of normal or near-normal development. Parents often first notice that their child is falling more, losing words they used to know, or struggling in school in ways that seem to be getting worse rather than better. Over time, thinking and memory skills may also decline alongside the movement problems. There is currently no cure for this condition. Treatment focuses on managing symptoms, keeping the child as comfortable and functional as possible, and supporting the family. Physical therapy, occupational therapy, speech therapy, and medications to control abnormal movements or seizures are the main tools doctors use. Research into the underlying causes is ongoing, and some children may be eligible for clinical trials. Early diagnosis is important so that supportive care can begin as soon as possible.

Also known as:

Key symptoms:

Loss of previously learned skills such as walking or talkingSlow or stiff movementsInvoluntary twisting or abnormal postures (dystonia)Tremors or shakingDecline in thinking, memory, and learning abilityDifficulty with balance and coordinationSpeech problems or loss of speechMuscle stiffness or rigidityBehavioral or personality changesDifficulty swallowingSeizures in some casesFatigue and reduced energy

Clinical phenotype terms (33)— hover any for plain English
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder.

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No actively recruiting trials found for Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder at this time.

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No specialists are currently listed for Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder.

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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 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder.

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Community

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Latest news about Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

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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.What tests do you recommend to find the specific cause of my child's regression, and how long will results take?,Are there any treatments or clinical trials available that might slow the progression of this condition?,What therapies — physical, occupational, or speech — should my child start right away, and how often?,What warning signs should prompt me to bring my child to the emergency room?,How can I connect with a palliative care team to help plan for my child's comfort as the disease progresses?,Are there support groups or patient organizations that can connect us with other families going through the same experience?,Should other family members be tested, and what does this diagnosis mean for the risk to siblings or future children?

Common questions about Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

What is Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder?

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder is a rare brain condition that causes children to lose skills they had already learned. 'Regression' means going backward — a child who could walk, talk, or think clearly may gradually lose those abilities over time. The disease also causes extrapyramidal movement problems, which means abnormal, involuntary movements such as stiffness, slow movements, tremors, or twisting postures that the child cannot control. These movement problems come from changes in the deep parts of the brain that normally help

At what age does Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder typically begin?

Typical onset of Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder is childhood. Age of onset can vary across affected individuals.