Acquired Creutzfeldt-Jakob disease

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ORPHA:454700OMIM:123400
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8Specialists8Treatment centers

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Overview

Acquired Creutzfeldt-Jakob disease (CJD) is a rare and serious brain disorder that belongs to a group of diseases called prion diseases or transmissible spongiform encephalopathies. Unlike the more common sporadic form of CJD, acquired CJD is caused by exposure to abnormal prion proteins from an external source. There are two main types of acquired CJD: iatrogenic CJD, which results from medical or surgical procedures (such as contaminated surgical instruments, corneal transplants, dura mater grafts, or human growth hormone derived from pituitary glands), and variant CJD (vCJD), which is linked to eating beef contaminated with bovine spongiform encephalopathy (BSE or "mad cow disease"). These abnormal prion proteins cause normal brain proteins to fold incorrectly, leading to progressive and irreversible brain damage. The brain develops a sponge-like appearance as nerve cells are destroyed. Symptoms of acquired CJD typically include rapidly worsening dementia, personality and behavior changes, problems with coordination and balance, vision problems, and involuntary muscle jerks. Variant CJD tends to affect younger people and often begins with psychiatric symptoms such as depression and anxiety before progressing to neurological problems. The disease progresses quickly, usually over weeks to months, and is unfortunately always fatal. There is currently no cure or treatment that can slow or stop the disease. Care focuses on managing symptoms and providing comfort. Research into potential treatments is ongoing, but the outlook remains very challenging for patients and families affected by this condition.

Key symptoms:

Rapidly worsening memory loss and confusionPersonality and behavior changesDepression and anxiety (especially in variant CJD)Difficulty walking and poor coordinationInvoluntary muscle jerks (myoclonus)Vision problems or blindnessDifficulty speaking or swallowingPainful sensations in the limbs (especially in variant CJD)Stiffness or rigidity of musclesWithdrawal from social activitiesInability to care for oneselfHallucinations or psychotic symptomsProgressive inability to move (akinetic mutism in late stages)

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Acquired Creutzfeldt-Jakob disease.

View clinical trials →

No actively recruiting trials found for Acquired Creutzfeldt-Jakob disease at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Acquired Creutzfeldt-Jakob disease community →

Specialists

8 foundView all specialists →
PF
Patricia E Hewitt, FRCP FRCPath
Specialist
PI on 1 active trial
MM
Michael Stevenson, MD
Specialist
PI on 1 active trial
JF
John Collinge, MD, FRCP
Specialist
PI on 1 active trial
TF
Theresa M Marteau, PhD FMedSci
Specialist
PI on 1 active trial
CM
Cameron F Ousbey, MSc
Specialist
PI on 1 active trial
JF
Janet Darbyshire, MBChB, FRCP
Specialist
PI on 1 active trial

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 Acquired Creutzfeldt-Jakob disease.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Acquired Creutzfeldt-Jakob disease

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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 type of acquired CJD do I have — iatrogenic or variant — and how was I likely exposed?,What is the expected timeline for disease progression in my case?,What symptoms should we prepare for, and what medications can help manage them?,Are there any clinical trials or experimental treatments I might be eligible for?,When should we involve palliative care or hospice services?,Is there any risk of transmission to my family members or caregivers?,What resources are available for emotional and practical support for my family?

Common questions about Acquired Creutzfeldt-Jakob disease

What is Acquired Creutzfeldt-Jakob disease?

Acquired Creutzfeldt-Jakob disease (CJD) is a rare and serious brain disorder that belongs to a group of diseases called prion diseases or transmissible spongiform encephalopathies. Unlike the more common sporadic form of CJD, acquired CJD is caused by exposure to abnormal prion proteins from an external source. There are two main types of acquired CJD: iatrogenic CJD, which results from medical or surgical procedures (such as contaminated surgical instruments, corneal transplants, dura mater grafts, or human growth hormone derived from pituitary glands), and variant CJD (vCJD), which is linke

How is Acquired Creutzfeldt-Jakob disease inherited?

Acquired Creutzfeldt-Jakob disease follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Acquired Creutzfeldt-Jakob disease?

8 specialists and care centers treating Acquired Creutzfeldt-Jakob disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.