Phenotypes associated with the disease infantile-onset ascending hereditary spastic paralysis (OMIM:607225):
- Abnormal lower motor neuron morphology (HP:0002366): Any structural anomaly of the lower motor neuron. Evidence: IEA. (OMIM:607225)
- Achilles tendon contracture (HP:0001771): A contracture of the Achilles tendon. Evidence: IEA. (OMIM:607225)
- Impaired mastication (HP:0005216): An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. Evidence: IEA. (OMIM:607225)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. (PMID:12145748)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: IEA. (OMIM:607225)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/15. (PMID:12145748)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:607225)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 9/15. (PMID:12145748)
- Slow saccadic eye movements (HP:0000514): An abnormally slow velocity of the saccadic eye movements. Evidence: PCS. Frequency: 25/25. (PMID:12145748;OMIM:607225)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 15/15. Onset: Juvenile onset (HP:0003621). (PMID:12145748)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: IEA. (OMIM:607225)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: IEA. (OMIM:607225)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 15/15. Onset: Juvenile onset (HP:0003621). (PMID:12145748)
- Spastic tetraplegia (HP:0002510): Spastic paralysis affecting all four limbs. Evidence: PCS. Frequency: 15/15. Onset: Juvenile onset (HP:0003621). (PMID:12145748)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:607225)
- 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: IEA. (OMIM:607225)
- 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. (OMIM:607225)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: IEA. (OMIM:607225)
- Dysarthria (HP:0001260): 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: IEA. (OMIM:607225)
- Abnormal corticospinal tract morphology (HP:0002492): Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. Evidence: TAS. Onset: Infantile onset (HP:0003593). (OMIM:607225)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12145748)
- Anarthria (HP:0002425): A defect in the motor ability that enables speech. Evidence: PCS. Frequency: 15/15. Onset: Juvenile onset (HP:0003621). (PMID:12145748)
- Spastic paraplegia (HP:0001258): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: PCS. Frequency: 15/15. Onset: Childhood onset (HP:0011463). (PMID:12145748)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: IEA. (OMIM:607225)
- Tetraplegia (HP:0002445): Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. Evidence: IEA. (OMIM:607225)