Congenital myopathy with myasthenic-like onset
ORPHA:424107DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)1
HP:0003473Fatigable weakness
Частый (30–79%)19
HP:0000508Ptosis
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001288Gait disturbance
HP:0001508Failure to thrive
HP:0002047Malignant hyperthermia
HP:0002058Myopathic facies
HP:0002205Recurrent respiratory infections
HP:0002650Scoliosis
HP:0002828Multiple joint contractures
HP:0003198Myopathy
HP:0003388Easy fatigability
HP:0003458EMG: myopathic abnormalities
HP:0003691Scapular winging
HP:0003701Proximal muscle weakness
HP:0003789Minicore myopathy
HP:0003803Type 1 muscle fiber predominance
HP:0008936Axial hypotonia
HP:0011968Feeding difficulties
Очень редкий (1–4%)2
HP:0000602Ophthalmoplegia
HP:0002747Respiratory insufficiency due to muscle weakness
Исключён (0%)3
HP:0003201Rhabdomyolysis
HP:0003236Elevated circulating creatine kinase concentration
HP:0040191Rectus femoris muscle atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)