Phenotypes associated with the disease Immune-mediated necrotizing myopathy (ORPHA:206569):
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206569)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206569)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206569)
- Muscle fiber necrosis (HP:0003713): Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206569)
- 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: Very frequent (HP:0040281). (ORPHA:206569)
- Fatiguable weakness of proximal limb muscles (HP:0030200): A type of weakness of a skeletal muscle of proximal part of a limb 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: Very frequent (HP:0040281). (ORPHA:206569)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206569)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206569)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206569)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206569)
- Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity (HP:0033708). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206569)
- Anti-signal recognition particle antibody positivity (HP:0033713): The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206569)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206569)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206569)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206569)
- Axial muscle weakness (HP:0003327): Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206569)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206569)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206569)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206569)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206569)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206569)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206569)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206569)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206569)