Clinical Signs and Symptoms

* (*) mandatory field

ORPHA:282166  Inherited Creutzfeldt-Jakob disease

The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.

Diagnostic criterion *
Abnormal pyramidal sign HP:0007256
Abnormality of vision HP:0000504
Akinetic mutism HP:0012672
Dementia HP:0000726
EEG with persistent abnormal rhythmic activity HP:0010846
Focal T2 hyperintense basal ganglia lesion HP:0007183
Myoclonus HP:0001336
Progressive cerebellar ataxia HP:0002073
Progressive extrapyramidal muscular rigidity HP:0007158
Increased CSF protein HP:0002922
* Phenotypic abnormalities noted as « diagnostic criterion » are those included in established sets of criteria to establish the diagnosis of a particular disease having been published in a peer-reviewed journal.
Clinical signs and symptoms

Additional information

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The information provided is based on published scientific articles.

The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.

The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.

Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.