Anoctamin-5-related limb-girdle muscular dystrophy R12
ORPHA:206549DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)4
HP:0003326Myalgia
HP:0006785Limb-girdle muscular dystrophy
HP:0008994Proximal muscle weakness in lower limbs
HP:0009053Distal lower limb muscle weakness
Частый (30–79%)19
HP:0001430Abnormality of the calf musculature
HP:0002816Genu recurvatum
HP:0003236Elevated circulating creatine kinase concentration
HP:0003445EMG: neuropathic changes
HP:0003458EMG: myopathic abnormalities
HP:0003482EMG: axonal abnormality
HP:0003555Muscle fiber splitting
HP:0003557Increased variability in muscle fiber diameter
HP:0003730EMG: myotonic runs
HP:0003738Exercise-induced myalgia
HP:0004303Abnormal muscle fiber morphology
HP:0007210Lower limb amyotrophy
HP:0008988Pelvic girdle muscle atrophy
HP:0008997Proximal muscle weakness in upper limbs
HP:0009050Quadriceps muscle atrophy
HP:0012548Fatty replacement of skeletal muscle
HP:0031237Internally nucleated skeletal muscle fibers
HP:0100295Muscle fiber atrophy
HP:0100297Increased endomysial connective tissue
Периодический (5–29%)12
HP:0001638Cardiomyopathy
HP:0002913Myoglobinuria
HP:0002987Elbow flexion contracture
HP:0003089Hamstring contractures
HP:0003691Scapular winging
HP:0006466Ankle flexion contracture
HP:0008981Calf muscle hypertrophy
HP:0009129Upper limb amyotrophy
HP:0010628Facial palsy
HP:0012785Flexion contracture of finger
HP:0001239Wrist flexion contracture
HP:0001371Flexion contracture
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)