Pelizaeus-Merzbacher disease, classic form
ORPHA:280219Clinical subtypeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)9
HP:0000639Nystagmus
HP:0000750Delayed speech and language development
HP:0001251Ataxia
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0006808Cerebral hypomyelination
HP:0011203EEG with abnormally slow frequencies
HP:0031936Delayed ability to walk
HP:0040330Confluent hyperintensity of cerebral white matter on MRI
Частый (30–79%)15
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001285Spastic tetraparesis
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0002167Abnormality of speech or vocalization
HP:0002305Athetosis
HP:0002346Head tremor
HP:0002421Poor head control
HP:0007256Abnormal pyramidal sign
HP:0007377Abnormality of somatosensory evoked potentials
HP:0008936Axial hypotonia
HP:0025336Delayed ability to sit
HP:0030187Titubation
HP:0100543Cognitive impairment
Периодический (5–29%)3
HP:0002071Abnormality of extrapyramidal motor function
HP:0002310Orofacial dyskinesia
HP:0031954Dystonic gait
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.17 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)