From HPO
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
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.
Gliosis- MedGen UID:
- 4899
- •Concept ID:
- C0017639
- •
- Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Mutism- MedGen UID:
- 6476
- •Concept ID:
- C0026884
- •
- Disease or Syndrome
Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Neurofibrillary tangles- MedGen UID:
- 39273
- •Concept ID:
- C0085400
- •
- Finding
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Akinesia- MedGen UID:
- 43218
- •Concept ID:
- C0085623
- •
- Finding
Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Apathy- MedGen UID:
- 39083
- •Concept ID:
- C0085632
- •
- Mental or Behavioral Dysfunction
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.
Photophobia- MedGen UID:
- 43220
- •Concept ID:
- C0085636
- •
- Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Falls- MedGen UID:
- 39084
- •Concept ID:
- C0085639
- •
- Finding
A sudden movement downward, usually resulting in injury.
Bradykinesia- MedGen UID:
- 115925
- •Concept ID:
- C0233565
- •
- Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Memory impairment- MedGen UID:
- 68579
- •Concept ID:
- C0233794
- •
- Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Micrographia- MedGen UID:
- 66806
- •Concept ID:
- C0240341
- •
- Finding
Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.
Parkinsonian disorder- MedGen UID:
- 66079
- •Concept ID:
- C0242422
- •
- Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Granulovacuolar degeneration- MedGen UID:
- 87168
- •Concept ID:
- C0333454
- •
- Pathologic Function
Electron-dense granules within double membrane-bound cytoplasmic vacuoles.
Senile plaques- MedGen UID:
- 83079
- •Concept ID:
- C0333463
- •
- Acquired Abnormality
Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.
Limb dystonia- MedGen UID:
- 152944
- •Concept ID:
- C0751093
- •
- Sign or Symptom
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Frontal release signs- MedGen UID:
- 318834
- •Concept ID:
- C1833297
- •
- Finding
Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.
Axial dystonia- MedGen UID:
- 373027
- •Concept ID:
- C1836149
- •
- Finding
A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
Gait imbalance- MedGen UID:
- 373028
- •Concept ID:
- C1836150
- •
- Finding
Frontolimbic dementia- MedGen UID:
- 324447
- •Concept ID:
- C1836151
- •
- Finding
Postural instability- MedGen UID:
- 334529
- •Concept ID:
- C1843921
- •
- Finding
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Neuronal loss in central nervous system- MedGen UID:
- 342515
- •Concept ID:
- C1850496
- •
- Finding
Irritability- MedGen UID:
- 397841
- •Concept ID:
- C2700617
- •
- Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Neuronal loss in basal ganglia- MedGen UID:
- 413431
- •Concept ID:
- C2750913
- •
- Finding
A reduction in the number of nerve cells in the basal ganglia.
Astrocytosis- MedGen UID:
- 854483
- •Concept ID:
- C3887640
- •
- Pathologic Function
Proliferation of astrocytes in the area of a lesion of the central nervous system.
Retrocollis- MedGen UID:
- 854508
- •Concept ID:
- C3887667
- •
- Disease or Syndrome
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
Rigidity- MedGen UID:
- 7752
- •Concept ID:
- C0026837
- •
- Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Eyelid apraxia- MedGen UID:
- 222979
- •Concept ID:
- C1142448
- •
- Finding
Diplopia- MedGen UID:
- 41600
- •Concept ID:
- C0012569
- •
- Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Blurred vision- MedGen UID:
- 91020
- •Concept ID:
- C0344232
- •
- Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
Supranuclear gaze palsy- MedGen UID:
- 314030
- •Concept ID:
- C1720037
- •
- Disease or Syndrome
A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system