Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
ORPHA:329336DiseaseAutosomal dominant, Mitochondrial inheritanceAdult
Ассоциированные гены2
Фенотипы (HPO)32
Облигатный (100%)1
HP:0000590Progressive external ophthalmoplegia
Очень частый (80–99%)2
HP:0003546Exercise intolerance
HP:0003690Limb muscle weakness
Частый (30–79%)14
HP:0000218High palate
HP:0000365Hearing impairment
HP:0001260Dysarthria
HP:0001488Bilateral ptosis
HP:0002015Dysphagia
HP:0002522Areflexia of lower limbs
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003202Skeletal muscle atrophy
HP:0003326Myalgia
HP:0003551Difficulty climbing stairs
HP:0003738Exercise-induced myalgia
HP:0011968Feeding difficulties
HP:0030196Fatigable weakness of respiratory muscles
HP:0030319Weakness of facial musculature
Периодический (5–29%)15
HP:0000565Esotropia
HP:0000580Pigmentary retinopathy
HP:0001638Cardiomyopathy
HP:0002076Migraine
HP:0002141Gait imbalance
HP:0002361Psychomotor deterioration
HP:0002406Limb dysmetria
HP:0002505Loss of ambulation
HP:0002549Deficit in phonologic short-term memory
HP:0002650Scoliosis
HP:0003133Abnormality of the spinocerebellar tracts
HP:0003722Neck flexor weakness
HP:0005150Abnormal atrioventricular conduction
HP:0007141Sensorimotor neuropathy
HP:0007256Abnormal pyramidal sign
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)