Calpain-3-related limb-girdle muscular dystrophy R1
ORPHA:267DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)1
HP:0003324Generalized muscle weakness
Частый (30–79%)18
HP:0001371Flexion contracture
HP:0002987Elbow flexion contracture
HP:0003089Hamstring contractures
HP:0003236Elevated circulating creatine kinase concentration
HP:0003306Spinal rigidity
HP:0003307Hyperlordosis
HP:0003560Muscular dystrophy
HP:0003691Scapular winging
HP:0003701Proximal muscle weakness
HP:0005879Congenital finger flexion contractures
HP:0006466Ankle flexion contracture
HP:0007340Lower limb muscle weakness
HP:0008946Pelvic girdle amyotrophy
HP:0008981Calf muscle hypertrophy
HP:0009060Scapular muscle atrophy
HP:0012037Pectoralis amyotrophy
HP:0030051Tip-toe gait
HP:0001288Gait disturbance
Периодический (5–29%)2
HP:0001239Wrist flexion contracture
HP:0003551Difficulty climbing stairs
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.6 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.8 | Reunion | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.65 | Italy | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)