Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
ORPHA:500180DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)8
HP:0000708Atypical behavior
HP:0001260Dysarthria
HP:0002015Dysphagia
HP:0002059Cerebral atrophy
HP:0002071Abnormality of extrapyramidal motor function
HP:0002376Developmental regression
HP:0007256Abnormal pyramidal sign
HP:0030890Hyperintensity of cerebral white matter on MRI
Частый (30–79%)12
HP:0000252Microcephaly
HP:0001250Seizure
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001332Dystonia
HP:0001344Absent speech
HP:0002066Gait ataxia
HP:0002187Intellectual disability, profound
HP:0002353EEG abnormality
HP:0002381Aphasia
HP:0002540Inability to walk
HP:0010864Intellectual disability, severe
Периодический (5–29%)13
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0000768Pectus carinatum
HP:0002072Chorea
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002509Limb hypertonia
HP:0002808Kyphosis
HP:0007328Impaired pain sensation
HP:0008947Floppy infant
HP:0011471Gastrostomy tube feeding in infancy
HP:0100710Impulsivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)