Inherited Creutzfeldt-Jakob disease
Synonyms: Inherited CJD
A rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia personality/behavioral changes psychiatric disorders myoclonus and ataxia) with a genetic cause and sometimes a family history of dementia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Inherited Creutzfeldt-Jakob disease?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Creutzfeldt – Jakob Foundation Israel
Our mission is to advance the research for the treatment and prevention of Creutzfeldt-Jakob disease (CJD), a neurodegenerative, rare, and fatal disease, that causes rapid deterioration and certain death (in a couple of months). We aim to accelerate research by founding a database and biobank of our families and genetic patients for researchers worldwide in a collaborative way.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.