Becker muscular dystrophy
ORPHA:98895DiseaseX-linked recessiveAdolescent, Adult, Childhood, Elderly
Ассоциированные гены1
Фенотипы (HPO)16
Очень частый (80–99%)7
HP:0001288Gait disturbance
HP:0002913Myoglobinuria
HP:0003236Elevated circulating creatine kinase concentration
HP:0003326Myalgia
HP:0003546Exercise intolerance
HP:0003551Difficulty climbing stairs
HP:0012086Abnormal urinary color
Частый (30–79%)6
HP:0001324Muscle weakness
HP:0002527Falls
HP:0002814Abnormality of the lower limb
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003394Muscle spasm
HP:0012378Fatigue
Периодический (5–29%)3
HP:0001763Pes planus
HP:0003202Skeletal muscle atrophy
HP:0030051Tip-toe gait
Эпидемиология13
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.7 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.64 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.4 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.53 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.47 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.94 | Egypt | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.91 | Japan | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.07 | South Africa | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.59 | Ireland | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.42 | Puerto rico | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)