| HPO |
HP:0001260 |
Dysarthria |
"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
— |
HP:0002167 |
| HPO |
HP:0001289 |
Confusion |
"Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
— |
HP:0004372 |
| HPO |
HP:0007270 |
Atypical absence seizure |
"An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity." [HPO:probinson, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275] |
in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. |
HP:0002121 |
| HPO |
HP:0007537 |
Severe photosensitivity |
"A severe degree of photosensitivity of the skin." [HPO:curators] |
— |
HP:0000992 |
| HPO |
HP:0001251 |
Ataxia |
"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)." [HPO:probinson] |
Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. |
HP:0011443 |
| HPO |
HP:0040288 |
Nasogastric tube feeding |
"The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food." [PMID:25874832] |
— |
HP:0033454 |
| HPO |
HP:0002384 |
Focal impaired awareness seizure |
"Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure." [HPO:pnrobinson, PMID:28276062, PMID:28276064, PMID:9738682] |
Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure. |
HP:0007359, HP:0011146 |
| HPO |
HP:0002540 |
Inability to walk |
"Incapability to ambulate." [HPO:probinson] |
— |
HP:0001288 |
| HPO |
HP:0001399 |
Hepatic failure |
— |
— |
HP:0001410 |
| HPO |
HP:0012444 |
Brain atrophy |
"Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] |
— |
HP:0007367, HP:0012443 |
| HPO |
HP:0001312 |
Giant somatosensory evoked potentials |
"An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials." [HPO:curators] |
— |
HP:0007377 |
| HPO |
HP:0031358 |
Vegetative state |
"Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities)." [] |
— |
HP:0004372 |
| HPO |
HP:0002123 |
Generalized myoclonic seizure |
"A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO:jalbers, PMID:28276060, PMID:28276064] |
— |
HP:0032677, HP:0032794 |
| HPO |
HP:0001257 |
Spasticity |
"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson] |
— |
HP:0001276, HP:0002493 |
| HPO |
HP:0002100 |
Recurrent aspiration pneumonia |
"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." [HPO:probinson] |
— |
HP:0011951 |
| HPO |
HP:0011165 |
Focal sensory seizure with visual features |
"A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation." [HPO:jalbers] |
More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. |
HP:0011157 |
| HPO |
HP:0002133 |
Status epilepticus |
"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures." [HPO:jalbers, ORCID:0000-0002-1735-8178, PMID:26336950, PMID:28276060] |
In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. |
HP:0001250 |
| HPO |
HP:0100318 |
Lafora bodies |
"An intraneuronal inclusion body composed of acid mucopolysaccharides." [HPO:sdoelken] |
— |
HP:0100314 |
| HPO |
HP:0000716 |
Depression |
"Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior." [HPO:probinson, PMID:23902698] |
— |
HP:0031466 |
| HPO |
HP:0002521 |
Hypsarrhythmia |
"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)." [HPO:curators] |
— |
HP:0011198 |
| HPO |
HP:0010819 |
Atonic seizure |
"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature." [HPO:jalbers, HPO:probinson, ORCID:0000-0002-1735-8178, PMID:11580774] |
This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known. |
HP:0020219 |
| HPO |
HP:0002367 |
Visual hallucinations |
"Visual perceptions that are not elicited by a corresponding stimulus from the outside world." [] |
— |
HP:0000738 |
| HPO |
HP:0002315 |
Headache |
"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, PMID:15304572] |
Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. |
HP:0012638 |
| HPO |
HP:0002360 |
Sleep disturbance |
"An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
— |
HP:0000708 |
| HPO |
HP:0007334 |
Bilateral tonic-clonic seizure with focal onset |
"A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase." [HPO:probinson, PMID:28276060, PMID:28276064] |
The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset. |
HP:0002069, HP:0007359 |