Synaptic congenital myasthenic syndrome
ORPHA:98915Etiological subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)54
Очень частый (80–99%)3
HP:0003324Generalized muscle weakness
HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003701Proximal muscle weakness
Частый (30–79%)23
HP:0000467Neck muscle weakness
HP:0000508Ptosis
HP:0000597Ophthalmoparesis
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0001488Bilateral ptosis
HP:0001612Weak cry
HP:0002015Dysphagia
HP:0002033Poor suck
HP:0002093Respiratory insufficiency
HP:0002098Respiratory distress
HP:0002421Poor head control
HP:0002460Distal muscle weakness
HP:0002515Waddling gait
HP:0003198Myopathy
HP:0003398Abnormal synaptic transmission at the neuromuscular junction
HP:0003436Prolonged miniature endplate currents
HP:0003443Decreased size of nerve terminals
HP:0003691Scapular winging
HP:0010628Facial palsy
HP:0012379Abnormal enzyme/coenzyme activity
HP:0030203Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Периодический (5–29%)17
HP:0000218High palate
HP:0001249Intellectual disability
HP:0001284Areflexia
HP:0001324Muscle weakness
HP:0002643Neonatal respiratory distress
HP:0002650Scoliosis
HP:0002783Recurrent lower respiratory tract infections
HP:0002791Hypoventilation
HP:0002815Abnormality of the knee
HP:0003202Skeletal muscle atrophy
HP:0003327Axial muscle weakness
HP:0003388Easy fatigability
HP:0003803Type 1 muscle fiber predominance
HP:0005216Impaired mastication
HP:0007941Limited extraocular movements
HP:0010535Sleep apnea
HP:0030211Slow pupillary light response
Очень редкий (1–4%)11
HP:0000207Triangular mouth
HP:0000303Mandibular prognathia
HP:0001667Right ventricular hypertrophy
HP:0001762Talipes equinovarus
HP:0001999Abnormal facial shape
HP:0002092Pulmonary arterial hypertension
HP:0002359Frequent falls
HP:0002875Exertional dyspnea
HP:0003554Type 2 muscle fiber atrophy
HP:0006251Limited wrist extension
HP:0030237Hand muscle weakness
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)