Mitochondrial DNA depletion syndrome, myopathic form
ORPHA:254875DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)39
Облигатный (100%)1
HP:0003198Myopathy
Очень частый (80–99%)4
HP:0001290Generalized hypotonia
HP:0001324Muscle weakness
HP:0002093Respiratory insufficiency
HP:0002333Motor deterioration
Частый (30–79%)20
HP:0001252Hypotonia
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0001531Failure to thrive in infancy
HP:0002098Respiratory distress
HP:0002197Generalized-onset seizure
HP:0002376Developmental regression
HP:0002460Distal muscle weakness
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002878Respiratory failure
HP:0003202Skeletal muscle atrophy
HP:0003324Generalized muscle weakness
HP:0003546Exercise intolerance
HP:0003698Difficulty standing
HP:0006532Recurrent pneumonia
HP:0007105Infantile encephalopathy
HP:0008872Feeding difficulties in infancy
HP:0009073Progressive proximal muscle weakness
HP:0012432Chronic fatigue
Периодический (5–29%)12
HP:0000590Progressive external ophthalmoplegia
HP:0000597Ophthalmoparesis
HP:0001260Dysarthria
HP:0001283Bulbar palsy
HP:0001488Bilateral ptosis
HP:0002015Dysphagia
HP:0003326Myalgia
HP:0005946Ventilator dependence with inability to wean
HP:0008610Infantile sensorineural hearing impairment
HP:0008625Severe sensorineural hearing impairment
HP:0030319Weakness of facial musculature
HP:0100543Cognitive impairment
Очень редкий (1–4%)2
HP:0002650Scoliosis
HP:0007269Spinal muscular atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 45 | 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)