FKRP-related limb-girdle muscular dystrophy R9
ORPHA:34515DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)17
Очень частый (80–99%)4
HP:0003236Elevated circulating creatine kinase concentration
HP:0003560Muscular dystrophy
HP:0003701Proximal muscle weakness
HP:0030099Reduced muscle fiber alpha dystroglycan
Частый (30–79%)6
HP:0001290Generalized hypotonia
HP:0002515Waddling gait
HP:0003547Shoulder girdle muscle weakness
HP:0003749Pelvic girdle muscle weakness
HP:0005109Abnormality of the Achilles tendon
HP:0008981Calf muscle hypertrophy
Периодический (5–29%)7
HP:0001270Motor delay
HP:0001644Dilated cardiomyopathy
HP:0002359Frequent falls
HP:0002650Scoliosis
HP:0003551Difficulty climbing stairs
HP:0009046Difficulty running
HP:0030092Reduced muscle fiber merosin
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.43 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.85 | Norway | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)