Phenotypes associated with the disease Autosomal recessive spastic paraplegia type 46 (ORPHA:320391):
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:320391)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:320391)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:320391)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:320391)
- 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:320391)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:320391)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:320391)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:320391)
- Abnormal cerebral white matter morphology (HP:0002500): An abnormality of the cerebral white matter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:320391)
- Corpus callosum atrophy (HP:0007371): The presence of atrophy (wasting) of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:320391)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:320391)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Truncal ataxia (HP:0002078): Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Broad-based gait (HP:0002136): An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Head tremor (HP:0002346): An unintentional, oscillating to-and-fro muscle movement affecting head movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Spastic dysarthria (HP:0002464): A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Impaired vibration sensation at ankles (HP:0006938): A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Upper limb spasticity (HP:0006986). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Jerky ocular pursuit movements (HP:0008003). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Abnormal sperm morphology (HP:0012864): A structural anomaly of sperm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Abnormal sperm head morphology (HP:0012865): A structural abnormality of the sperm head. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)
- Abnormal tendon morphology (HP:0100261): An abnormality of the structure or form of the tendons, also often called sinews. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:320391)