Muscle filaminopathy
ORPHA:171445DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)3
HP:0003458EMG: myopathic abnormalities
HP:0008180Mildly elevated creatine kinase
HP:0008994Proximal muscle weakness in lower limbs
Частый (30–79%)5
HP:0001288Gait disturbance
HP:0002093Respiratory insufficiency
HP:0003418Back pain
HP:0003551Difficulty climbing stairs
HP:0003555Muscle fiber splitting
Периодический (5–29%)10
HP:0001638Cardiomyopathy
HP:0001712Left ventricular hypertrophy
HP:0003691Scapular winging
HP:0009830Peripheral neuropathy
HP:0011712Right bundle branch block
HP:0012548Fatty replacement of skeletal muscle
HP:0025168Left ventricular diastolic dysfunction
HP:0030177Abnormality of peripheral nervous system electrophysiology
HP:0030319Weakness of facial musculature
HP:0034392Joint contracture
Очень редкий (1–4%)4
HP:0003326Myalgia
HP:0003722Neck flexor weakness
HP:0030235Extremely elevated creatine kinase
HP:0410011Abnormality of masticatory muscle
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)