- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100989)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100989)
- Lower limb spasticity (HP:0002061): Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100989)
- Degeneration of the lateral corticospinal tracts (HP:0002314): Deterioration of the tissues of the lateral corticospinal tracts. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100989)
- 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:100989)
- Progressive spastic paraplegia (HP:0007020). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100989)
- Urinary urgency (HP:0000012): Urge incontinence is the strong, sudden need to urinate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- 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:100989)
- Limb ataxia (HP:0002070): A kind of ataxia that affects movements of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- Impaired vibration sensation in the lower limbs (HP:0002166): A decrease in the ability to perceive vibration in the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- Limb dysmetria (HP:0002406): A type of dysmetria involving the limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- Peroneal muscle atrophy (HP:0009049): Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- Spinal cord lesion (HP:0100561). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100989)
- Clonus (HP:0002169): A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100989)
- Upper limb spasticity (HP:0006986). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100989)
These phenotypes are associated with the disease Autosomal dominant spastic paraplegia type 8 (ORPHA:100989).
The following phenotypes are NOT associated with this disease:
- Abnormal cerebrospinal fluid morphology (HP:0002921): An abnormality of the cerebrospinal fluid (CSF). Evidence: TAS. (ORPHA:100989)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. (ORPHA:100989)
- Abnormal lower-limb motor evoked potentials (HP:0012898): An anomaly identified by motor evoked potentials (MEPs) in the leg. Evidence: TAS. (ORPHA:100989)