Progressive external ophthalmoplegia-myopathy-emaciation syndrome
ORPHA:352447DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)1
HP:0000590Progressive external ophthalmoplegia
Частый (30–79%)21
HP:0000508Ptosis
HP:0001265Hyporeflexia
HP:0001611Hypernasal speech
HP:0001618Dysphonia
HP:0001644Dilated cardiomyopathy
HP:0002015Dysphagia
HP:0002018Nausea
HP:0002094Dyspnea
HP:0002719Recurrent infections
HP:0002808Kyphosis
HP:0002878Respiratory failure
HP:0003198Myopathy
HP:0003200Ragged-red muscle fibers
HP:0003236Elevated circulating creatine kinase concentration
HP:0003306Spinal rigidity
HP:0003388Easy fatigability
HP:0003546Exercise intolerance
HP:0003700Generalized amyotrophy
HP:0008443Spinal deformities
HP:0030319Weakness of facial musculature
HP:0040013Decreased mitochondrial number
Периодический (5–29%)3
HP:0000787Nephrolithiasis
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0004396Poor appetite
Очень редкий (1–4%)6
HP:0000252Microcephaly
HP:0000815Hypergonadotropic hypogonadism
HP:0001249Intellectual disability
HP:0001272Cerebellar atrophy
HP:0002014Diarrhea
HP:0011675Arrhythmia
Исключён (0%)1
HP:0000651Diplopia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)