Congenital-onset Steinert myotonic dystrophy
ORPHA:589821Clinical subtypeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)4
HP:0000256Macrocephaly
HP:0000297Facial hypotonia
HP:0010804Tented upper lip vermilion
HP:0031843Bradyphrenia
Частый (30–79%)12
HP:0000736Short attention span
HP:0001319Neonatal hypotonia
HP:0001622Premature birth
HP:0001883Talipes
HP:0002119Ventriculomegaly
HP:0002486Myotonia
HP:0002643Neonatal respiratory distress
HP:0002650Scoliosis
HP:0007010Poor fine motor coordination
HP:0011098Speech apraxia
HP:0011705First degree atrioventricular block
HP:0011710Bundle branch block
Периодический (5–29%)17
HP:0000518Cataract
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0000752Hyperactivity
HP:0000805Enuresis
HP:0001558Decreased fetal movement
HP:0001561Polyhydramnios
HP:0001643Patent ductus arteriosus
HP:0001671Abnormal cardiac septum morphology
HP:0002014Diarrhea
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002027Abdominal pain
HP:0002360Sleep abnormality
HP:0004325Decreased body weight
HP:0040183Encopresis
Очень редкий (1–4%)1
HP:0001513Obesity
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.1 | Canada | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.94 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 47.6 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)