Phenotypes associated with the disease Progressive supranuclear palsy-pure akinesia with gait freezing syndrome (ORPHA:240094):
- Akinesia (HP:0002304): Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:240094)
- Freezing of gait (HP:0031825): Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:240094)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:240094)
- Weak voice (HP:0001621): Reduced intensity (volume) of speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240094)
- Gait imbalance (HP:0002141). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240094)
- Spastic dysarthria (HP:0002464): A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240094)
- Fixed facial expression (HP:0005329). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240094)
- Abnormal prosody (HP:0031434): Prosody refers to the patterns of rhythm, stress, and intonation in spoken language. Abnormal prosody refers to abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization that can be heard by the observer. In general, this refers to overt and clear deviations in patterns from culturally accepted norms but many also include differences noted in comparison to the usual patterns of the individual (a quiet person suddenly becomes loud or vice versa). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240094)
- Palilalia (HP:0031814): Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240094)
- Micrographia (HP:0031908): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240094)
- Tachylalia (HP:0031937): Speech that is abnormally fast as compared to the perceived cultural norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:240094)
- 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: Occasional (HP:0040283). (ORPHA:240094)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240094)
- Falls (HP:0002527). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240094)
- Short stepped shuffling gait (HP:0007311). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240094)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:240094)
- Hypometric saccades (HP:0000571): Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:240094)
- 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: Very rare (HP:0040284). (ORPHA:240094)
- Oculomotor apraxia (HP:0000657): Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:240094)
Not associated with this disease:
- Rigidity (HP:0002063): 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. Evidence: TAS. (ORPHA:240094)
- 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. (ORPHA:240094)