- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3198)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3198)
- Falls (HP:0002527). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3198)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3198)
- Intermittent painful muscle spasms (HP:0011964): History of repeated intermittent involuntary muscle contractions that were painful. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3198)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Agoraphobia (HP:0000756): A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- 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:3198)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Exaggerated startle response (HP:0002267): An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Paraspinal muscle hypertrophy (HP:0012894): Muscle hypertrophy affecting the paraspinal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Autoimmune antibody positivity (HP:0030057): The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Anti-Amphiphysin antibody (HP:5000002): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Anti-DPPX antibody (HP:5000007): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Anti-GAD65 antibody (HP:5000011): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Anti-Gephyrin antibody (HP:5000012): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Anti-GlyR antibody (HP:5000014): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3198)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3198)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3198)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3198)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3198)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3198)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3198)
- Freezing of gait (HP:0031825): Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3198)
- 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:3198)
These phenotypes are associated with the disease Stiff person spectrum disorder (ORPHA:3198).
The following phenotypes are NOT associated with this disease:
- Abnormal nervous system morphology (HP:0012639): A structural anomaly of the nervous system. Evidence: TAS. (ORPHA:3198)