Central core disease
ORPHA:597DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)25
Частый (30–79%)16
HP:0001382Joint hypermobility
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001374Congenital hip dislocation
HP:0001634Mitral valve prolapse
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0002047Malignant hyperthermia
HP:0002751Kyphoscoliosis
HP:0002828Multiple joint contractures
HP:0003198Myopathy
HP:0003388Easy fatigability
HP:0003552Muscle stiffness
HP:0003749Pelvic girdle muscle weakness
HP:0003803Type 1 muscle fiber predominance
HP:0030230Central core regions in muscle fibers
Периодический (5–29%)4
HP:0000602Ophthalmoplegia
HP:0002483Bulbar signs
HP:0003798Nemaline bodies
HP:0040081Abnormal circulating creatine kinase concentration
Очень редкий (1–4%)4
HP:0001989Fetal akinesia sequence
HP:0002643Neonatal respiratory distress
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003236Elevated circulating creatine kinase concentration
Исключён (0%)1
HP:0040191Rectus femoris muscle atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.4 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)