Phenotypes associated with the disease Focal stiff limb syndrome (ORPHA:443804):
- 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:443804)
- 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:443804)
- Brisk reflexes (HP:0001348): Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443804)
- 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:443804)
- Falls (HP:0002527). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443804)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443804)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443804)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443804)
- Anti-glutamic acid decarboxylase antibody positivity (HP:0025329): The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443804)
- EMG: continuous motor unit activity at rest (HP:0100283): Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443804)
- 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: Occasional (HP:0040283). (ORPHA:443804)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443804)
- 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:443804)
- Limb myoclonus (HP:0045084). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443804)
- Anti-Amphiphysin antibody (HP:5000002): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443804)
- 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: Occasional (HP:0040283). (ORPHA:443804)
- Anti-Gephyrin antibody (HP:5000012): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443804)