POMGNT2-related limb-girdle muscular dystrophy R24
ORPHA:565899DiseaseAdolescent, Infancy
Фенотипы (HPO)13
Частый (30–79%)7
HP:0001249Intellectual disability
HP:0001270Motor delay
HP:0002465Poor speech
HP:0003236Elevated circulating creatine kinase concentration
HP:0008981Calf muscle hypertrophy
HP:0008994Proximal muscle weakness in lower limbs
HP:0100614Myositis
Периодический (5–29%)6
HP:0003202Skeletal muscle atrophy
HP:0003698Difficulty standing
HP:0005912Biliary atresia
HP:0007018Attention deficit hyperactivity disorder
HP:0009046Difficulty running
HP:0011892Low levels of vitamin K
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)