Dysferlin-related limb-girdle muscular dystrophy R2
ORPHA:268DiseaseAutosomal recessiveAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)1
HP:0003236Elevated circulating creatine kinase concentration
Частый (30–79%)2
HP:0007340Lower limb muscle weakness
HP:0008994Proximal muscle weakness in lower limbs
Периодический (5–29%)15
HP:0001315Reduced tendon reflexes
HP:0001640Cardiomegaly
HP:0001667Right ventricular hypertrophy
HP:0001761Pes cavus
HP:0003115Abnormal EKG
HP:0003307Hyperlordosis
HP:0003551Difficulty climbing stairs
HP:0003691Scapular winging
HP:0003722Neck flexor weakness
HP:0008981Calf muscle hypertrophy
HP:0008997Proximal muscle weakness in upper limbs
HP:0009046Difficulty running
HP:0011712Right bundle branch block
HP:0012664Reduced left ventricular ejection fraction
HP:0100748Muscular edema
Очень редкий (1–4%)11
HP:0002015Dysphagia
HP:0002072Chorea
HP:0002540Inability to walk
HP:0002996Limited elbow movement
HP:0003306Spinal rigidity
HP:0005085Limited knee flexion/extension
HP:0008800Limited hip movement
HP:0008959Distal upper limb muscle weakness
HP:0030051Tip-toe gait
HP:0045054Brachial plexus neuropathy
HP:0100515Pollakisuria
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)