POMT2-related limb-girdle muscular dystrophy R14
ORPHA:206559DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)20
Очень частый (80–99%)3
HP:0003236Elevated circulating creatine kinase concentration
HP:0006785Limb-girdle muscular dystrophy
HP:0030099Reduced muscle fiber alpha dystroglycan
Частый (30–79%)7
HP:0001288Gait disturbance
HP:0001328Specific learning disability
HP:0002194Delayed gross motor development
HP:0003551Difficulty climbing stairs
HP:0007126Proximal amyotrophy
HP:0030197Fatigable weakness of skeletal muscles
HP:0100543Cognitive impairment
Периодический (5–29%)10
HP:0001263Global developmental delay
HP:0001644Dilated cardiomyopathy
HP:0002119Ventriculomegaly
HP:0002540Inability to walk
HP:0003691Scapular winging
HP:0003697Scapuloperoneal amyotrophy
HP:0006913Frontal cortical atrophy
HP:0008981Calf muscle hypertrophy
HP:0011712Right bundle branch block
HP:0025169Left ventricular systolic dysfunction
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 1 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)