Pelizaeus-Merzbacher disease
ORPHA:702DiseaseX-linked dominant, X-linked recessiveAll ages
Фенотипы (HPO)32
Очень частый (80–99%)17
HP:0000505Visual impairment
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000708Atypical behavior
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001288Gait disturbance
HP:0001387Joint stiffness
HP:0001531Failure to thrive in infancy
HP:0001622Premature birth
HP:0002120Cerebral cortical atrophy
HP:0002376Developmental regression
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0004326Cachexia
HP:0100022Abnormality of movement
Частый (30–79%)14
HP:0000079Abnormality of the urinary system
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000649Abnormality of visual evoked potentials
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001266Choreoathetosis
HP:0001332Dystonia
HP:0002093Respiratory insufficiency
HP:0002167Abnormality of speech or vocalization
HP:0002205Recurrent respiratory infections
HP:0002607Bowel incontinence
HP:0004322Short stature
HP:0100026Arteriovenous malformation
Периодический (5–29%)1
HP:0009830Peripheral neuropathy
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.25 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.35 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 | Germany | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)