Cap myopathy
ORPHA:171881DiseaseAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены3
Фенотипы (HPO)30
Частый (30–79%)5
HP:0000218High palate
HP:0000276Long face
HP:0001270Motor delay
HP:0001315Reduced tendon reflexes
HP:0004303Abnormal muscle fiber morphology
Периодический (5–29%)25
HP:0000767Pectus excavatum
HP:0001290Generalized hypotonia
HP:0001611Hypernasal speech
HP:0001634Mitral valve prolapse
HP:0001763Pes planus
HP:0002359Frequent falls
HP:0002421Poor head control
HP:0002616Aortic root aneurysm
HP:0002938Lumbar hyperlordosis
HP:0002943Thoracic scoliosis
HP:0003388Easy fatigability
HP:0003391Gowers sign
HP:0003551Difficulty climbing stairs
HP:0003557Increased variability in muscle fiber diameter
HP:0003700Generalized amyotrophy
HP:0006673Reduced systolic function
HP:0007110Central hypoventilation
HP:0007210Lower limb amyotrophy
HP:0007340Lower limb muscle weakness
HP:0008081Pes valgus
HP:0009046Difficulty running
HP:0010628Facial palsy
HP:0011703Sinus tachycardia
HP:0030051Tip-toe gait
HP:0030200Fatiguable weakness of proximal limb muscles
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 21 | 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)