Immune-mediated necrotizing myopathy
ORPHA:206569DiseaseNot applicableAdolescent, Adult, Childhood, Elderly
Фенотипы (HPO)24
Очень частый (80–99%)6
HP:0003198Myopathy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003458EMG: myopathic abnormalities
HP:0003713Muscle fiber necrosis
HP:0030057Autoimmune antibody positivity
HP:0030200Fatiguable weakness of proximal limb muscles
Частый (30–79%)7
HP:0002015Dysphagia
HP:0003202Skeletal muscle atrophy
HP:0003326Myalgia
HP:0008994Proximal muscle weakness in lower limbs
HP:0033708Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity
HP:0033713Anti-signal recognition particle antibody positivity
HP:0100614Myositis
Периодический (5–29%)7
HP:0001962Palpitations
HP:0002664Neoplasm
HP:0003327Axial muscle weakness
HP:0003691Scapular winging
HP:0006530Abnormal pulmonary interstitial morphology
HP:0012819Myocarditis
HP:0100749Chest pain
Очень редкий (1–4%)4
HP:0000988Skin rash
HP:0001635Congestive heart failure
HP:0002829Arthralgia
HP:0030880Raynaud phenomenon
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)