Phenotypes associated with the disease spastic paraplegia 18a, autosomal dominant (OMIM:620512):
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: PCS. Frequency: 1/5. (PMID:32094424)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/5. (PMID:32094424)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: PCS. Frequency: 1/5. (PMID:32094424)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/5. (PMID:32094424)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 5/5. (PMID:32094424)
- 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: PCS. Frequency: 2/5. (PMID:32094424)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: PCS. Frequency: 0/5. (PMID:32094424)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 0/5. (PMID:32094424)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: PCS. Frequency: 0/5. (PMID:32094424)
- 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: PCS. Frequency: 5/5. (PMID:32094424)
- Ankle clonus (HP:0011448): Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. Evidence: PCS. Frequency: 4/5. (PMID:32094424)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: PCS. Frequency: 5/5. (PMID:32094424)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/5. (PMID:32094424)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 2/5. Onset: Late onset (HP:0003584). (PMID:32094424)
- Autosomal dominant inheritance (HP:0000006): 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:32094424)
- Upper limb spasticity (HP:0006986). Evidence: PCS. Frequency: 0/5. (PMID:32094424)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/5. (PMID:32094424)