Myoclonus-dystonia syndrome
ORPHA:36899DiseaseAutosomal dominant, Not applicableAdolescent, Adult, Childhood
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SGCE | sarcoglycan epsilon | Disease-causing germline mutation(s) in | gene with protein product | 604149 |
| TOR1A | torsin family 1 member A | Candidate gene tested in | gene with protein product | 605204 |
| DRD2 | dopamine receptor D2 | Candidate gene tested in | gene with protein product | 126450 |
| DYT15 | dystonia 15, myoclonic | Role in the phenotype of | Disorder-associated locus | — |
| KCTD17 | potassium channel tetramerization domain containing 17 | Disease-causing germline mutation(s) in | gene with protein product | 616386 |
Фенотипы (HPO)11
Очень частый (80–99%)4
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0010531Spinal myoclonus
HP:0045084Limb myoclonus
Частый (30–79%)7
HP:0000473Torticollis
HP:0000716Depression
HP:0000722Compulsive behaviors
HP:0000739Anxiety
HP:0002356Writer's cramp
HP:0012075Personality disorder
HP:0025269Panic attack
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)