Orphanet: Clinical Signs and Symptoms

Clinical Signs and Symptoms

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

Frequent

Abnormal pyramidal sign HP:0007256
Abnormality of vision HP:0000504
Akinetic mutism HP:0012672
Anxiety HP:0000739
Apathy HP:0000741
Astrocytosis HP:0002446
Babinski sign HP:0003487
Bradykinesia HP:0002067
Central nervous system degeneration HP:0007009
Clumsiness HP:0002312
Confusion HP:0001289
Dementia HP:0000726
Depressivity HP:0000716
Diffuse spongiform leukoencephalopathy HP:0006943
Dysautonomia HP:0002459
EEG with persistent abnormal rhythmic activity HP:0010846
Emotional lability HP:0000712
Focal T2 hyperintense basal ganglia lesion HP:0007183
Gait ataxia HP:0002066
Global brain atrophy HP:0002283
Hypersomnia HP:0100786
Insomnia HP:0100785
Irritability HP:0000737
Loss of facial expression HP:0005327
Muscle weakness HP:0001324
Myoclonus HP:0001336
Neuronal loss in central nervous system HP:0002529
Nystagmus HP:0000639
Personality changes HP:0000751
Poor visual behavior for age HP:0025152
Progressive cerebellar ataxia HP:0002073
Progressive extrapyramidal muscular rigidity HP:0007158
Progressive forgetfulness HP:0007017
Seizures HP:0001250
Senile plaques HP:0100256
Short attention span HP:0000736
Slurred speech HP:0001350
Spastic dysarthria HP:0002464
Spastic hemiparesis HP:0011099
Stroke-like episode HP:0002401
Supranuclear gaze palsy HP:0000605
Tremor HP:0001337

Occasional

Abnormal pupillary function HP:0007686
Amyloidosis of peripheral nerves HP:0100292
Chorea HP:0002072
Delusions HP:0000746
Hallucinations HP:0000738
Increased CSF protein HP:0002922
Trigeminal neuralgia HP:0100661
Vestibular nystagmus HP:0010542

Additional information

Further information

Specialised Social Services

Eurordis directory

Warning

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.