Adult-onset nemaline myopathy
ORPHA:171442DiseaseNot applicableAdult
Фенотипы (HPO)29
Очень частый (80–99%)3
HP:0003198Myopathy
HP:0003458EMG: myopathic abnormalities
HP:0003798Nemaline bodies
Частый (30–79%)8
HP:0002067Bradykinesia
HP:0003326Myalgia
HP:0003484Upper limb muscle weakness
HP:0003557Increased variability in muscle fiber diameter
HP:0003722Neck flexor weakness
HP:0003803Type 1 muscle fiber predominance
HP:0009058Increased muscle lipid content
HP:0031047Paraproteinemia
Периодический (5–29%)16
HP:0000218High palate
HP:0000275Narrow face
HP:0000276Long face
HP:0000347Micrognathia
HP:0001265Hyporeflexia
HP:0001288Gait disturbance
HP:0001371Flexion contracture
HP:0001644Dilated cardiomyopathy
HP:0002068Neuromuscular dysphagia
HP:0002483Bulbar signs
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002792Reduced vital capacity
HP:0003552Muscle stiffness
HP:0007340Lower limb muscle weakness
HP:0010546Muscle fibrillation
HP:0011968Feeding difficulties
Очень редкий (1–4%)1
HP:0008180Mildly elevated creatine kinase
Исключён (0%)1
HP:0007010Poor fine motor coordination
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)