Hereditary myopathy with early respiratory failure
ORPHA:178464DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)24
Частый (30–79%)18
HP:0001288Gait disturbance
HP:0002091Restrictive ventilatory defect
HP:0002094Dyspnea
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002792Reduced vital capacity
HP:0003202Skeletal muscle atrophy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003458EMG: myopathic abnormalities
HP:0003555Muscle fiber splitting
HP:0003557Increased variability in muscle fiber diameter
HP:0003722Neck flexor weakness
HP:0003803Type 1 muscle fiber predominance
HP:0003805Rimmed vacuoles
HP:0008800Limited hip movement
HP:0008978Necrotizing myopathy
HP:0009027Foot dorsiflexor weakness
HP:0012764Orthopnea
HP:0031237Internally nucleated skeletal muscle fibers
Периодический (5–29%)5
HP:0002460Distal muscle weakness
HP:0003701Proximal muscle weakness
HP:0008963Tibialis muscle weakness
HP:0008981Calf muscle hypertrophy
HP:0100293Muscle fiber hypertrophy
Очень редкий (1–4%)1
HP:0002527Falls
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | Worldwide | Family(ies) |
| 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)