- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:101011)
- Brisk reflexes (HP:0001348, a Human Phenotype Ontology term): Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:101011)
- Spastic gait (HP:0002064, a Human Phenotype Ontology term): 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: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:101011)
- Proximal lower limb muscle weakness (HP:0008994, a Human Phenotype Ontology term): A lack of strength of the proximal muscles of the legs. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:101011)
- Hypertonia (HP:0001276, a Human Phenotype Ontology term): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:101011)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:101011)
- Pes cavus (HP:0001761, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:101011)
- Lower limb hyperreflexia (HP:0002395, a Human Phenotype Ontology term): Increased intensity of the a reflex in the leg. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:101011)
- Distal sensory impairment (HP:0002936, a Human Phenotype Ontology term): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:101011)
- Upper limb hyperreflexia (HP:0007350, a Human Phenotype Ontology term): Increased intensity of the a reflex in the arm. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:101011)
- Proximal lower limb amyotrophy (HP:0008956, a Human Phenotype Ontology term): Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:101011)
- Difficulty running (HP:0009046, a Human Phenotype Ontology term): Reduced ability to run. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:101011)
- Impaired proprioception (HP:0010831, a Human Phenotype Ontology term): A loss or impairment of the sensation of the relative position of parts of the body and joint position. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:101011)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): 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: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:101011)
- Spastic tetraparesis (HP:0001285, a Human Phenotype Ontology term): Spastic weakness affecting all four limbs. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:101011)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:101011)
- Bulbar signs (HP:0002483, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:101011)
- Hand muscle weakness (HP:0030237, a Human Phenotype Ontology term): Reduced strength of the musculature of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:101011)
These phenotypes are associated with the disease Autosomal dominant spastic paraplegia type 31 (ORPHA:101011, an Orphanet rare-disease identifier).