Severe X-linked mitochondrial encephalomyopathy
ORPHA:238329DiseaseX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)23
Очень частый (80–99%)11
HP:0000750Delayed speech and language development
HP:0001284Areflexia
HP:0001290Generalized hypotonia
HP:0003202Skeletal muscle atrophy
HP:0003324Generalized muscle weakness
HP:0003390Sensory axonal neuropathy
HP:0003557Increased variability in muscle fiber diameter
HP:0006829Severe muscular hypotonia
HP:0009830Peripheral neuropathy
HP:0010994Abnormal corpus striatum morphology
HP:0011343Moderate global developmental delay
Частый (30–79%)11
HP:0000737Irritability
HP:0001308Tongue fasciculations
HP:0002093Respiratory insufficiency
HP:0002098Respiratory distress
HP:0002151Increased circulating lactate concentration
HP:0002375Hypokinesia
HP:0002376Developmental regression
HP:0002490Increased CSF lactate
HP:0003542Increased serum pyruvate
HP:0004305Involuntary movements
HP:0009025Increased connective tissue
Периодический (5–29%)1
HP:0008872Feeding difficulties in infancy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 2 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)