Metachromatic leukodystrophy
ORPHA:512DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy
Фенотипы (HPO)45
Очень частый (80–99%)2
HP:0006970Periventricular leukomalacia
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)17
HP:0000365Hearing impairment
HP:0000505Visual impairment
HP:0000649Abnormality of visual evoked potentials
HP:0000762Decreased nerve conduction velocity
HP:0001250Seizure
HP:0001251Ataxia
HP:0001265Hyporeflexia
HP:0001288Gait disturbance
HP:0001324Muscle weakness
HP:0002191Progressive spasticity
HP:0002359Frequent falls
HP:0002376Developmental regression
HP:0002922Increased CSF protein concentration
HP:0003394Muscle spasm
HP:0008947Floppy infant
HP:0009830Peripheral neuropathy
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)19
HP:0000020Urinary incontinence
HP:0000708Atypical behavior
HP:0000709Psychosis
HP:0000712Emotional lability
HP:0000726Dementia
HP:0000751Personality changes
HP:0001260Dysarthria
HP:0001332Dystonia
HP:0001337Tremor
HP:0002311Incoordination
HP:0002607Bowel incontinence
HP:0009763Limb pain
HP:0011471Gastrostomy tube feeding in infancy
HP:0011968Feeding difficulties
HP:0012531Pain
HP:0030051Tip-toe gait
HP:0030858Addictive behavior
HP:0031064Impaired continence
HP:0100753Schizophrenia
Очень редкий (1–4%)7
HP:0002246Abnormality of the duodenum
HP:0002576Intussusception
HP:0002577Abnormal stomach morphology
HP:0012437Abnormal gallbladder morphology
HP:0025013Decerebrate rigidity
HP:0100575Neoplasm of the gallbladder
HP:0100762Hemobilia
Эпидемиология12
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.47 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.42 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.85 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.43 | Turkey | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.09 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.69 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Poland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.73 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)