Metachromatic leukodystrophy, late infantile form
ORPHA:309256Clinical subtypeAutosomal recessiveInfancy
Ассоциированные гены2
Фенотипы (HPO)36
Частый (30–79%)20
HP:0000020Urinary incontinence
HP:0000648Optic atrophy
HP:0000762Decreased nerve conduction velocity
HP:0001250Seizure
HP:0001260Dysarthria
HP:0001265Hyporeflexia
HP:0001290Generalized hypotonia
HP:0001324Muscle weakness
HP:0001332Dystonia
HP:0002066Gait ataxia
HP:0002312Clumsiness
HP:0002359Frequent falls
HP:0002376Developmental regression
HP:0002415Leukodystrophy
HP:0002922Increased CSF protein concentration
HP:0003444EMG: chronic denervation signs
HP:0007133Progressive peripheral neuropathy
HP:0007240Progressive gait ataxia
HP:0030051Tip-toe gait
HP:0030081Punctate periventricular T2 hyperintense foci
Периодический (5–29%)14
HP:0000649Abnormality of visual evoked potentials
HP:0000712Emotional lability
HP:0000738Hallucinations
HP:0000746Delusion
HP:0001082Cholecystitis
HP:0001257Spasticity
HP:0001939Abnormality of metabolism/homeostasis
HP:0002371Loss of speech
HP:0003270Abdominal distention
HP:0003487Babinski sign
HP:0007663Reduced visual acuity
HP:0008619Bilateral sensorineural hearing impairment
HP:0008872Feeding difficulties in infancy
HP:0012433Abnormal social behavior
Очень редкий (1–4%)2
HP:0025013Decerebrate rigidity
HP:0031358Vegetative state
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | — | Worldwide | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)