Oromandibular dystonia
ORPHA:93958DiseaseAdolescent, Adult, Childhood, Elderly, Infancy
Фенотипы (HPO)21
Частый (30–79%)8
HP:0000277Abnormality of the mandible
HP:0000716Depression
HP:0001618Dysphonia
HP:0001824Weight loss
HP:0002015Dysphagia
HP:0005216Impaired mastication
HP:0010754Abnormality of the temporomandibular joint
HP:0012531Pain
Периодический (5–29%)10
HP:0000159Abnormal lip morphology
HP:0000273Facial grimacing
HP:0000366Abnormality of the nose
HP:0000473Torticollis
HP:0000643Blepharospasm
HP:0002487Hyperkinetic movements
HP:0003763Bruxism
HP:0007325Generalized dystonia
HP:0012049Laryngeal dystonia
HP:0031008Lingual dystonia
Очень редкий (1–4%)3
HP:0001260Dysarthria
HP:0002098Respiratory distress
HP:0002451Limb dystonia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)