Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
ORPHA:206546ErkrankungX-chromosomal-rezessivErwachsenenalter
Ассоциированные гены1
Фенотипы (HPO)20
Частый (30–79%)3
HP:0002938Lumbar hyperlordosis
HP:0003236Elevated circulating creatine kinase concentration
HP:0003701Proximal muscle weakness
Периодический (5–29%)13
HP:0001435Abnormality of the shoulder girdle musculature
HP:0001644Dilated cardiomyopathy
HP:0001712Left ventricular hypertrophy
HP:0002540Inability to walk
HP:0002942Thoracic kyphosis
HP:0002943Thoracic scoliosis
HP:0003324Generalized muscle weakness
HP:0003326Myalgia
HP:0003394Muscle spasm
HP:0003710Exercise-induced muscle cramps
HP:0003731Quadriceps muscle weakness
HP:0008981Calf muscle hypertrophy
HP:0030097Absent muscle dystrophin expression
Очень редкий (1–4%)2
HP:0001635Congestive heart failure
HP:0002987Elbow flexion contracture
Исключён (0%)2
HP:0002380Fasciculations
HP:0003409Distal sensory impairment of all modalities
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)