Phenotypes associated with the disease Secondary syringomyelia (ORPHA:99857):
- 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:99857)
- Syringomyelia (HP:0003396): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:99857)
- Hyperintensity of MRI T2 signal of the spinal cord (HP:0040272): A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99857)
- Hypogeusia (HP:0000224): A decreased ability to perceive flavor. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Dysphonia (HP:0001618): Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Fatigable weakness (HP:0003473): A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Facial paralysis (HP:0007209): Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Paroxysmal vertigo (HP:0010532): Paroxysmal episodes of vertigo. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Paraplegia (HP:0010550): Severe or complete weakness of both lower extremities with sparing of the upper extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Sensory ataxia (HP:0010871): Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- CSF pleocytosis (HP:0012229): An increased white blood cell count in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99857)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99857)
- 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:99857)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99857)
- Bulbar palsy (HP:0001283): Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99857)
- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99857)
- Meningioma (HP:0002858): The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99857)
- Distal sensory impairment of all modalities (HP:0003409): Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99857)
- Pseudobulbar paralysis (HP:0007024): Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99857)
- CNS demyelination (HP:0007305): A loss of myelin from nerve fibers in the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99857)
- Dysuria (HP:0100518): Painful or difficult urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99857)