Phenotypes associated with the disease Classic progressive supranuclear palsy syndrome (ORPHA:240071):
- Postural instability (HP:0002172): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:240071)
- Falls (HP:0002527). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:240071)
- Slow saccadic eye movements (HP:0000514): An abnormally slow velocity of the saccadic eye movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:240071)
- Conjunctival hyperemia (HP:0030953): Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Decreased lacrimation (HP:0000633): Abnormally decreased lacrimation, that is, reduced tear production. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Blepharospasm (HP:0000643): A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Social and occupational deterioration (HP:0007086). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240071)
- Impulsivity (HP:0100710): Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Slowed slurred speech (HP:0007164). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Supranuclear gaze palsy (HP:0000605): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Neuromuscular dysphagia (HP:0002068). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240071)
- Parkinsonism (HP:0001300): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Axial muscle stiffness (HP:0006921): Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240071)
- Bradykinesia (HP:0002067): 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). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Gait imbalance (HP:0002141). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Vertical supranuclear gaze palsy (HP:0000511): A supranuclear gaze palsy is an inability to look in a vertical 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Axial dystonia (HP:0002530): A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Akinesia (HP:0002304): Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240071)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240071)
- Dysarthria (HP:0001260): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Progressive extrapyramidal muscular rigidity (HP:0007158): A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240071)
- Abnormal saccadic eye movements (HP:0000570): An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240071)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240071)
- Parkinsonism with favorable response to dopaminergic medication (HP:0002548): Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240071)