Phenotypes associated with the disease Acute disseminated encephalomyelitis (ORPHA:83597):
- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:83597)
- Diffuse white matter abnormalities (HP:0007204). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83597)
- CNS demyelination (HP:0007305): A loss of myelin from nerve fibers in the central nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83597)
- EEG with generalized slow activity (HP:0010845): Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83597)
- 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:83597)
- 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: Frequent (HP:0040282). (ORPHA:83597)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- 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:83597)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Abnormal basal ganglia morphology (HP:0002134): Abnormality of the basal ganglia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Abnormal spinal cord morphology (HP:0002143): A structural abnormality of the spinal cord (myelon). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Cerebral edema (HP:0002181): Abnormal accumulation of fluid in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- 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: Frequent (HP:0040282). (ORPHA:83597)
- Abnormal periventricular white matter morphology (HP:0002518): A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Myelitis (HP:0012486): Inflammation of the spinal cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Abnormal thalamic MRI signal intensity (HP:0012696): A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Abnormal brainstem MRI signal intensity (HP:0012747): A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Interictal EEG abnormality (HP:0025373): Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Disseminated viral infection (HP:0031696): A viral infection that fails to be contained by the immune system and spreads throughout the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Anti-myelin oligodendrocyte glycoprotein antibody positivity (HP:0032492): Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- CSF lymphocytic pleiocytosis (HP:0200149): An increased lymphocyte count in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83597)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- 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: Occasional (HP:0040283). (ORPHA:83597)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- EEG with focal slow activity (HP:0010843): Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Atypical absence status epilepticus (HP:0011151): Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- EEG with focal spikes (HP:0011193): EEG with focal sharp transient waves of a duration less than 80 msec. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Eye movement-induced pain (HP:0030857): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Nuchal rigidity (HP:0031179): Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Optic neuritis (HP:0100653): Inflammation of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83597)
- Involuntary movements (HP:0004305): Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83597)
- Viral hepatitis (HP:0006562): Inflammation of the liver due to infection with a virus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83597)
- Diaphragmatic paralysis (HP:0006597): The presence of a paralyzed diaphragm. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83597)
- Hypointensity of cerebral white matter on MRI (HP:0007103): A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83597)
- HSV encephalitis (HP:0012302): Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83597)
- Post-vaccination measles (HP:0020088): Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83597)
- Post-vaccination rubella (HP:0020089): Infection with the rubella virus of the live-attenuated vaccine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83597)
- Severe Epstein Barr virus infection (HP:0031693): An unusually severe Epstein Barr virus (EBV) infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83597)
- Severe parainfluenza infection (HP:0031695): Increased susceptibility to parainfluenza virus infections as manifested by a severe or invasive infection with parainfluenza virus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83597)