Phenotypes associated with the disease Autosomal recessive spastic paraplegia type 57 (ORPHA:431329):
- Abnormality of peripheral nerve conduction (HP:0003134): An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:431329)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:431329)
- Difficulty standing (HP:0003698). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:431329)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- Spastic paraplegia (HP:0001258): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- Abnormal Achilles tendon morphology (HP:0005109): An abnormality of the Achilles tendon. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- Motor polyneuropathy (HP:0007178). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)
- Abnormal myelination (HP:0012447): Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:431329)