Phenotypes associated with the disease Primary lateral sclerosis (ORPHA:35689):
- Upper motor neuron dysfunction (HP:0002493): A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35689)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35689)
- Generalized hyperreflexia (HP:0007034). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35689)
- Urinary urgency (HP:0000012): Urge incontinence is the strong, sudden need to urinate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Spastic gait (HP:0002064): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Gait imbalance (HP:0002141). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Pseudobulbar signs (HP:0002200): Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Loss of speech (HP:0002371). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35689)
- Abnormal upper motor neuron morphology (HP:0002127): Any structural anomaly that affects the upper motor neuron. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35689)
- 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:35689)
- EMG: chronic denervation signs (HP:0003444): Evidence of chronic denervation on electromyography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Progressive spastic paraparesis (HP:0007199). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Impaired smooth pursuit (HP:0007772): An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Weakness due to upper motor neuron dysfunction (HP:0010549): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Hoffmann sign (HP:0031993): A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35689)
- Hypernasal speech (HP:0001611): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35689)
- Atrophy of the spinal cord (HP:0006827). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35689)
- Motor axonal neuropathy (HP:0007002): Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35689)
- Cervical spinal cord atrophy (HP:0010873): Atrophy of the cervical segment of the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35689)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35689)
Not associated with this disease:
- Abnormality of extrapyramidal motor function (HP:0002071): A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). Evidence: TAS. (ORPHA:35689)
- Abnormal lower motor neuron morphology (HP:0002366): Any structural anomaly of the lower motor neuron. Evidence: TAS. (ORPHA:35689)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. (ORPHA:35689)