Dystonia-aphonia syndrome
ORPHA:412217DiseaseAutosomal dominantAdolescent, Adult, Childhood, Infancy
Фенотипы (HPO)24
Очень частый (80–99%)6
HP:0000183Tongue muscle weakness
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0002015Dysphagia
HP:0005216Impaired mastication
HP:0007325Generalized dystonia
Частый (30–79%)12
HP:0000158Macroglossia
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0002059Cerebral atrophy
HP:0002317Unsteady gait
HP:0002425Anarthria
HP:0007327Mixed demyelinating and axonal polyneuropathy
HP:0007885Slowed horizontal saccades
HP:0008777Abnormal vocal cord morphology
HP:0012048Oromandibular dystonia
HP:0012087Abnormal mitochondrial shape
HP:0012088Abnormal urinary odor
Периодический (5–29%)6
HP:0001618Dysphonia
HP:0000212Gingival overgrowth
HP:0000739Anxiety
HP:0001263Global developmental delay
HP:0001336Myoclonus
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 32 | Worldwide | Case(s) |
| 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)