- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206594)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206594)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206594)
- Decreased motor nerve conduction velocity (HP:0003431): A type of decreased nerve conduction velocity that affects the motor neuron. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206594)
- Abnormality of somatosensory evoked potentials (HP:0007377): An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206594)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- 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:206594)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Frequent falls (HP:0002359). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Axonal loss (HP:0003447): A reduction in the number of axons in the peripheral nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- 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:206594)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Diffuse peripheral demyelination (HP:0006881): A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Decreased amplitude of sensory action potentials (HP:0007078): A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Demyelinating motor neuropathy (HP:0007220): Demyelination of peripheral motor nerves. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Symmetric peripheral demyelination (HP:0007262): A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Peripheral demyelination (HP:0011096): A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206594)
- Choreoathetosis (HP:0001266): Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Abnormal calf musculature morphology (HP:0001430). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Positive Romberg sign (HP:0002403): The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Steppage gait (HP:0003376): An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Decreased sensory nerve conduction velocity (HP:0003448): Reduced speed of conduction of the action potential along a sensory nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Limited elbow flexion (HP:0006376). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Absent patellar reflexes (HP:0006844): Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Decreased distal sensory nerve action potential (HP:0007230): A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Limited hip movement (HP:0008800): A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Limitation of movement at ankles (HP:0010505): An abnormal limitation of the mobility of the ankle joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Motor conduction block (HP:0012078): Blockade of impulses at a focal site along the course of a motor axon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Severe infection (HP:0032169): A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206594)
- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206594)
- Abnormality of the autonomic nervous system (HP:0002270): An abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206594)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206594)
These phenotypes are associated with the disease Subacute inflammatory demyelinating polyneuropathy (ORPHA:206594).