Phenotypes associated with the disease Spinocerebellar ataxia type 2 (ORPHA:98756):
- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98756)
- Abnormal substantia nigra morphology (HP:0045007): A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98756)
- Slow saccadic eye movements (HP:0000514): An abnormally slow velocity of the saccadic eye movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Supranuclear ophthalmoplegia (HP:0000623): A vertical gaze palsy with inability to direct the gaze of the eyes downwards. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- 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: Frequent (HP:0040282). (ORPHA:98756)
- 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:98756)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- 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: Frequent (HP:0040282). (ORPHA:98756)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Chorea (HP:0002072): Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Postural tremor (HP:0002174): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Fasciculations (HP:0002380): Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Abnormal spinocerebellar tract morphology (HP:0003133): An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Olivopontocerebellar hypoplasia (HP:0006955): Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Spinal cord dorsal column hypomyelination (HP:0008311): Lower than normal amount of myelin in the dorsal (posterior) tract of the spinal cord white matter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Cerebellar Purkinje layer atrophy (HP:0012082): Atrophy of the cerebellum affecting primarily the Purkinje cell layer. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Abnormal cell morphology (HP:0025461): Any anomaly of cell structure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Kinetic tremor (HP:0030186): Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98756)
- Ophthalmoparesis (HP:0000597): Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98756)
- 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: Occasional (HP:0040283). (ORPHA:98756)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98756)
- Abnormal cortical gyration (HP:0002536): An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98756)
- Hyperactive deep tendon reflexes (HP:0006801). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98756)
- Cerebral white matter atrophy (HP:0012762): The presence of atrophy (wasting) of the cerebral white matter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98756)