ISPD-related limb-girdle muscular dystrophy R20
ORPHA:352479DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)16
Очень частый (80–99%)2
HP:0003325Limb-girdle muscle weakness
HP:0030046Hypoglycosylation of alpha-dystroglycan
Частый (30–79%)8
HP:0000158Macroglossia
HP:0001626Abnormality of the cardiovascular system
HP:0002792Reduced vital capacity
HP:0003202Skeletal muscle atrophy
HP:0003707Calf muscle pseudohypertrophy
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
HP:0030234Highly elevated creatine kinase
Периодический (5–29%)4
HP:0002505Loss of ambulation
HP:0003326Myalgia
HP:0003691Scapular winging
HP:0008305Exercise-induced myoglobinuria
Очень редкий (1–4%)2
HP:0000478Abnormality of the eye
HP:0011446Abnormality of higher mental function
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)