- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 6/6. (PMID:25751282)
- Babinski sign (HP:0003487, a Human Phenotype Ontology term): 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: PCS. Frequency: 6/6. (PMID:25751282)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 6/6. (PMID:25751282)
- Claw toe deformity (HP:0034397, a Human Phenotype Ontology term): Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints. Evidence: PCS. Frequency: 2/5. (PMID:25751282)
- Adult onset (HP:0003581, a Human Phenotype Ontology term): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 6/6. (PMID:25751282)
- Prolonged central motor conduction time (HP:0034399, a Human Phenotype Ontology term): Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation. Evidence: PCS. Frequency: 6/6. (PMID:25751282)
- Proximal muscle weakness (HP:0003701, a Human Phenotype Ontology term): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 6/6. (PMID:25751282)
- Spastic paraplegia (HP:0001258, a Human Phenotype Ontology term): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: PCS. Frequency: 6/6. (PMID:25751282)
- Impaired distal vibration sensation (HP:0006886, a Human Phenotype Ontology term): A decrease in the ability to perceive vibration in the distal portions of the limbs. Evidence: PCS. Frequency: 6/6. (PMID:25751282)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:25751282)
- Slowly progressive (HP:0003677, a Human Phenotype Ontology term): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:25751282)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 6/6. (PMID:25751282)
These phenotypes are associated with the disease hereditary spastic paraplegia 73 (OMIM:616282, an entry in Online Mendelian Inheritance in Man).