- Acute demyelinating polyneuropathy (HP:0007131): Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:98916)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- Drooling (HP:0002307): Habitual flow of saliva out of the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- EMG: neuropathic changes (HP:0003445): The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- Sleepy facial expression (HP:0005335). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- Dysesthesia (HP:0012534): Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- Impaired oropharyngeal swallow response (HP:0031162): Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98916)
- Onion bulb formation (HP:0003383): Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98916)
These phenotypes are associated with the disease Acute inflammatory demyelinating polyradiculoneuropathy (ORPHA:98916).
The following phenotypes are NOT associated with this disease:
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: TAS. (ORPHA:98916)