Moderate multiminicore disease with hand involvement
ORPHA:178145Clinical subtypeAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)14
Частый (30–79%)11
HP:0001319Neonatal hypotonia
HP:0001382Joint hypermobility
HP:0001762Talipes equinovarus
HP:0002194Delayed gross motor development
HP:0003324Generalized muscle weakness
HP:0003327Axial muscle weakness
HP:0008954Intrinsic hand muscle atrophy
HP:0008959Distal upper limb muscle weakness
HP:0009046Difficulty running
HP:0010628Facial palsy
HP:0012391Hyporeflexia of upper limbs
Периодический (5–29%)3
HP:0003803Type 1 muscle fiber predominance
HP:0004976Knee dislocation
HP:0005001Recurrent patellar dislocation
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)