Phenotypes associated with the disease Sporadic Creutzfeldt-Jakob disease (ORPHA:204):
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Loss of speech (HP:0002371). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Upper motor neuron dysfunction (HP:0002493): A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Hyperactive deep tendon reflexes (HP:0006801). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:204)
- Neuronal loss in central nervous system (HP:0002529). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:204)
- Cerebral cortex with spongiform changes (HP:0006790). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:204)
- Akinetic mutism (HP:0012672): The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:204)
- Hyperintensity of cerebral white matter on MRI (HP:0030890): A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:204)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Recurrent aspiration pneumonia (HP:0002100): Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Gliosis (HP:0002171): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Visual hallucination (HP:0002367): Visual perception in the absence of a visual stimulus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Astrocytosis (HP:0002446): Proliferation of astrocytes in the area of a lesion of the central nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Hypsarrhythmia (HP:0002521): Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:204)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Apathy (HP:0000741): Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)
- Abnormality of extrapyramidal motor function (HP:0002071): A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:204)