Duchenne muscular dystrophy

ORPHA:98896DiseaseX-linked recessiveChildhood

Ассоциированные гены2

Ген	Полное название	Тип связи	Тип гена	OMIM
DMD	dystrophin	Disease-causing germline mutation(s) in	gene with protein product	300377
LTBP4	latent transforming growth factor beta binding protein 4	Modifying germline mutation in	gene with protein product	604710

Очень частый (80–99%)15

HP:0000750Delayed speech and language development

HP:0001263Global developmental delay

HP:0001270Motor delay

HP:0001328Specific learning disability

HP:0001371Flexion contracture

HP:0001638Cardiomyopathy

HP:0002093Respiratory insufficiency

HP:0002515Waddling gait

HP:0002650Scoliosis

HP:0003202Skeletal muscle atrophy

HP:0003236Elevated circulating creatine kinase concentration

HP:0003323Progressive muscle weakness

HP:0003701Proximal muscle weakness

HP:0008981Calf muscle hypertrophy

HP:0100543Cognitive impairment

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Prevalence at birth	1-9 / 100 000	9.9	Worldwide	Value and class
Point prevalence	1-9 / 100 000	4.14	United Kingdom	Value and class
Prevalence at birth	1-5 / 10 000	14	United States	Value and class
Prevalence at birth	1-5 / 10 000	12	Netherlands	Value and class
Prevalence at birth	1-5 / 10 000	10.5	Canada	Value and class
Prevalence at birth	1-9 / 100 000	9.7	United Kingdom	Value and class
Prevalence at birth	1-9 / 100 000	8.2	Ireland	Value and class
Point prevalence	1-9 / 100 000	1.7	Italy	Value and class
Point prevalence	1-9 / 100 000	4.26	Ireland	Value and class
Point prevalence	1-9 / 100 000	2.8	Worldwide	Value and class
Lifetime Prevalence	1-9 / 100 000	7.66	Egypt	Value and class
Point prevalence	1-9 / 100 000	3.56	Japan	Value and class
Point prevalence	1-9 / 1 000 000	0.47	South Africa	Value and class
Point prevalence	1-9 / 100 000	2.75	Denmark	Value and class
Point prevalence	1-9 / 100 000	2.59	Puerto rico	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)