Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
ORPHA:353DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)27
Частый (30–79%)20
HP:0000158Macroglossia
HP:0001667Right ventricular hypertrophy
HP:0002136Broad-based gait
HP:0002359Frequent falls
HP:0002515Waddling gait
HP:0002938Lumbar hyperlordosis
HP:0003236Elevated circulating creatine kinase concentration
HP:0003458EMG: myopathic abnormalities
HP:0003484Upper limb muscle weakness
HP:0003551Difficulty climbing stairs
HP:0003557Increased variability in muscle fiber diameter
HP:0003691Scapular winging
HP:0003707Calf muscle pseudohypertrophy
HP:0003730EMG: myotonic runs
HP:0004311Abnormal macrophage morphology
HP:0008981Calf muscle hypertrophy
HP:0009046Difficulty running
HP:0030007EMG: positive sharp waves
HP:0100284EMG: myotonic discharges
HP:0100297Increased endomysial connective tissue
Периодический (5–29%)7
HP:0000276Long face
HP:0001771Achilles tendon contracture
HP:0002650Scoliosis
HP:0003391Gowers sign
HP:0003722Neck flexor weakness
HP:0025169Left ventricular systolic dysfunction
HP:0030051Tip-toe gait
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.13 | United Kingdom | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.18 | Japan | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)