X-linked centronuclear myopathy
ORPHA:596DiseaseX-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)2
HP:0003755Type 1 fibers relatively smaller than type 2 fibers
HP:0030917Low APGAR score
Частый (30–79%)17
HP:0000478Abnormality of the eye
HP:0001319Neonatal hypotonia
HP:0001558Decreased fetal movement
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0002033Poor suck
HP:0002090Pneumonia
HP:0002098Respiratory distress
HP:0002205Recurrent respiratory infections
HP:0003687Centrally nucleated skeletal muscle fibers
HP:0004887Respiratory failure requiring assisted ventilation
HP:0006829Severe muscular hypotonia
HP:0008872Feeding difficulties in infancy
HP:0030192Fatigable weakness of bulbar muscles
HP:0030195Fatigable weakness of swallowing muscles
HP:0030319Weakness of facial musculature
HP:0031238Necklace skeletal muscle fibers
Периодический (5–29%)5
HP:0000218High palate
HP:0000268Dolichocephaly
HP:0000276Long face
HP:0001999Abnormal facial shape
HP:0002540Inability to walk
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | France | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)