Oculopharyngeal muscular dystrophy
ORPHA:270DiseaseAutosomal dominant, Autosomal recessiveAdult, Elderly
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)9
HP:0000508Ptosis
HP:0000602Ophthalmoplegia
HP:0002015Dysphagia
HP:0003198Myopathy
HP:0003200Ragged-red muscle fibers
HP:0003302Spondylolisthesis
HP:0003805Rimmed vacuoles
HP:0004303Abnormal muscle fiber morphology
HP:0012378Fatigue
Частый (30–79%)13
HP:0000183Tongue muscle weakness
HP:0001618Dysphonia
HP:0003325Limb-girdle muscle weakness
HP:0003327Axial muscle weakness
HP:0011968Feeding difficulties
HP:0012473Tongue atrophy
HP:0012531Pain
HP:0012548Fatty replacement of skeletal muscle
HP:0030319Weakness of facial musculature
HP:0032342Reduced forced expiratory volume in one second
HP:0034045Angulated muscle fibers
HP:0100304Muscle fiber intranuclear inclusion bodies
HP:6001011Wet voice
Периодический (5–29%)2
HP:0000298Mask-like facies
HP:0003236Elevated circulating creatine kinase concentration
Очень редкий (1–4%)2
HP:0010535Sleep apnea
HP:0100543Cognitive impairment
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 167 | Specific population | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | France | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Point prevalence | >1 / 1000 | 100 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)