Phenotypes associated with the disease Autosomal recessive spastic paraplegia type 61 (ORPHA:401780):
- 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: Frequent (HP:0040282). (ORPHA:401780)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:401780)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:401780)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:401780)
- Abnormal Achilles tendon morphology (HP:0005109): An abnormality of the Achilles tendon. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:401780)
- Hyperactive patellar reflex (HP:0007083). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:401780)
- Motor polyneuropathy (HP:0007178). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:401780)
- Scissor gait (HP:0012407): A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:401780)