Proximal spinal muscular atrophy
ORPHA:70DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)50
Очень частый (80–99%)2
HP:0003202Skeletal muscle atrophy
HP:0003701Proximal muscle weakness
Частый (30–79%)21
HP:0001283Bulbar palsy
HP:0001284Areflexia
HP:0001308Tongue fasciculations
HP:0001315Reduced tendon reflexes
HP:0002015Dysphagia
HP:0002033Poor suck
HP:0002100Recurrent aspiration pneumonia
HP:0002460Distal muscle weakness
HP:0002540Inability to walk
HP:0002643Neonatal respiratory distress
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003327Axial muscle weakness
HP:0003551Difficulty climbing stairs
HP:0003731Quadriceps muscle weakness
HP:0004878Intercostal muscle weakness
HP:0004891Recurrent infections due to aspiration
HP:0009046Difficulty running
HP:0012378Fatigue
HP:0030319Weakness of facial musculature
HP:0031108Triceps weakness
HP:0001288Gait disturbance
Периодический (5–29%)24
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001319Neonatal hypotonia
HP:0001349Facial diplegia
HP:0001371Flexion contracture
HP:0001558Decreased fetal movement
HP:0001631Atrial septal defect
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002091Restrictive ventilatory defect
HP:0002421Poor head control
HP:0002578Gastroparesis
HP:0002650Scoliosis
HP:0002791Hypoventilation
HP:0002827Hip dislocation
HP:0002828Multiple joint contractures
HP:0002878Respiratory failure
HP:0002942Thoracic kyphosis
HP:0003698Difficulty standing
HP:0006380Knee flexion contracture
HP:0006844Absent patellar reflexes
HP:0008959Distal upper limb muscle weakness
HP:0009053Distal lower limb muscle weakness
Очень редкий (1–4%)3
HP:0001662Bradycardia
HP:0001942Metabolic acidosis
HP:0002987Elbow flexion contracture
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.6 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 20 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)