Phenotypes associated with the disease hereditary spastic paraplegia 17 (OMIM:270685, an entry in Online Mendelian Inheritance in Man):
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:23553728)
- Decreased motor nerve conduction velocity (HP:0003431, a Human Phenotype Ontology term): A type of decreased nerve conduction velocity that affects the motor neuron. Evidence: PCS. Frequency: 1/1. (PMID:23553728)
- Impaired distal proprioception (HP:0006858, a Human Phenotype Ontology term): A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints. Evidence: PCS. Frequency: 1/1. (PMID:23553728)
- Impaired vibration sensation in the lower limbs (HP:0002166, a Human Phenotype Ontology term): A decrease in the ability to perceive vibration in the legs. Evidence: IEA. (OMIM:270685)
- 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: 1/1. (PMID:23553728)
- 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: PCS. Frequency: 1/1. (PMID:23553728)
- Distal amyotrophy (HP:0003693, a Human Phenotype Ontology term): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: PCS. Frequency: 1/1. (PMID:23553728)
- Impaired distal tactile sensation (HP:0006937, a Human Phenotype Ontology term): A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. Evidence: PCS. Frequency: 1/1. (PMID:23553728)
- Distal muscle weakness (HP:0002460, a Human Phenotype Ontology term): Reduced strength of the musculature of the distal extremities. Evidence: PCS. Frequency: 1/1. (PMID:23553728)
- Postural tremor (HP:0002174, a Human Phenotype Ontology term): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: PCS. Frequency: 1/1. (PMID:23553728)
- 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: IEA. (OMIM:270685)
- First dorsal interossei muscle weakness (HP:0003392, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:270685)
- Lower limb spasticity (HP:0002061, a Human Phenotype Ontology term): 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: IEA. (OMIM:270685)
- Thenar muscle atrophy (HP:0003393, a Human Phenotype Ontology term): Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. Evidence: IEA. (OMIM:270685)
- Split hand (HP:0001171, a Human Phenotype Ontology term): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: PCS. Frequency: 1/1. (PMID:23553728)
- Lower limb muscle weakness (HP:0007340, a Human Phenotype Ontology term): Weakness of the muscles of the legs. Evidence: TAS. (OMIM:270685)
- First dorsal interossei muscle atrophy (HP:0003426, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:270685)
- 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: 1/1. (PMID:23553728)
- Thenar muscle weakness (HP:0003427, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:270685)
- 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:14981520)
- 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: IEA. (OMIM:270685)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 1/1. (PMID:23553728)