Early-onset generalized limb-onset dystonia
ORPHA:256DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TOR1A | torsin family 1 member A | Disease-causing germline mutation(s) in | gene with protein product | 605204 |
| EIF2AK2 | eukaryotic translation initiation factor 2 alpha kinase 2 | Disease-causing germline mutation(s) in | gene with protein product | 176871 |
| SHQ1 | SHQ1, H/ACA ribonucleoprotein assembly factor | Disease-causing germline mutation(s) in | gene with protein product | 613663 |
Фенотипы (HPO)5
Очень частый (80–99%)4
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0003011Abnormality of the musculature
HP:0100022Abnormality of movement
Частый (30–79%)1
HP:0001608Abnormality of the voice
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 20 | Specific population | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.2 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.4 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.4 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8.3 | France | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)