Autosomal dominant mitochondrial myopathy with exercise intolerance
ORPHA:457050DiseaseAutosomal dominantChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)13
Частый (30–79%)12
HP:0002091Restrictive ventilatory defect
HP:0002151Increased circulating lactate concentration
HP:0003200Ragged-red muscle fibers
HP:0003546Exercise intolerance
HP:0003722Neck flexor weakness
HP:0004322Short stature
HP:0008180Mildly elevated creatine kinase
HP:0008994Proximal muscle weakness in lower limbs
HP:0009053Distal lower limb muscle weakness
HP:0012240Increased intramyocellular lipid droplets
HP:0030319Weakness of facial musculature
HP:0040014Increased mitochondrial number
Периодический (5–29%)1
HP:0008997Proximal muscle weakness in upper limbs
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)