X-linked Emery-Dreifuss muscular dystrophy
ORPHA:98863Etiological subtypeX-linked recessiveChildhood
Ассоциированные гены2
Фенотипы (HPO)44
Очень частый (80–99%)7
HP:0000767Pectus excavatum
HP:0001315Reduced tendon reflexes
HP:0001387Joint stiffness
HP:0002486Myotonia
HP:0003198Myopathy
HP:0003236Elevated circulating creatine kinase concentration
HP:0006785Limb-girdle muscular dystrophy
Частый (30–79%)20
HP:0000470Short neck
HP:0000912Sprengel anomaly
HP:0001288Gait disturbance
HP:0001639Hypertrophic cardiomyopathy
HP:0002155Hypertriglyceridemia
HP:0002515Waddling gait
HP:0003141Increased LDL cholesterol concentration
HP:0003306Spinal rigidity
HP:0003418Back pain
HP:0003458EMG: myopathic abnormalities
HP:0003691Scapular winging
HP:0003805Rimmed vacuoles
HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0008948Proximal upper limb amyotrophy
HP:0008956Proximal lower limb amyotrophy
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
HP:0011807Type 1 muscle fiber atrophy
HP:0030051Tip-toe gait
HP:0030117Absent muscle fiber emerin
Периодический (5–29%)12
HP:0000508Ptosis
HP:0001252Hypotonia
HP:0001513Obesity
HP:0001678Atrioventricular block
HP:0001771Achilles tendon contracture
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002987Elbow flexion contracture
HP:0003307Hyperlordosis
HP:0005115Supraventricular arrhythmia
HP:0008064Ichthyosis
HP:0009125Lipodystrophy
Очень редкий (1–4%)4
HP:0001605Vocal cord paralysis
HP:0001645Sudden cardiac death
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0005155Ventricular escape rhythm
Исключён (0%)1
HP:0001249Intellectual disability
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)