Adult-onset autosomal dominant leukodystrophy
ORPHA:99027DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)61
Очень частый (80–99%)2
HP:0001251Ataxia
HP:0012332Abnormal autonomic nervous system physiology
Частый (30–79%)17
HP:0001257Spasticity
HP:0001288Gait disturbance
HP:0001324Muscle weakness
HP:0001337Tremor
HP:0001347Hyperreflexia
HP:0002066Gait ataxia
HP:0002493Upper motor neuron dysfunction
HP:0002936Distal sensory impairment
HP:0003487Babinski sign
HP:0005341Autonomic bladder dysfunction
HP:0006827Atrophy of the spinal cord
HP:0006958Abnormal auditory evoked potentials
HP:0007256Abnormal pyramidal sign
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0007377Abnormality of somatosensory evoked potentials
HP:0011931Abnormality of the cerebellar peduncle
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)38
HP:0000010Recurrent urinary tract infections
HP:0000012Urinary urgency
HP:0000016Urinary retention
HP:0000496Abnormality of eye movement
HP:0000639Nystagmus
HP:0000802Impotence
HP:0000970Anhidrosis
HP:0001260Dysarthria
HP:0001276Hypertonia
HP:0001278Orthostatic hypotension
HP:0001310Dysmetria
HP:0001371Flexion contracture
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002045Hypothermia
HP:0002064Spastic gait
HP:0002075Dysdiadochokinesis
HP:0002080Intention tremor
HP:0002169Clonus
HP:0002200Pseudobulbar signs
HP:0002273Tetraparesis
HP:0002345Action tremor
HP:0002599Head titubation
HP:0003326Myalgia
HP:0004302Functional motor deficit
HP:0004395Malnutrition
HP:0005968Temperature instability
HP:0006886Impaired distal vibration sensation
HP:0007351Upper limb postural tremor
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0007369Atrophy/Degeneration affecting the cerebrum
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0007480Decreased sweating due to autonomic dysfunction
HP:0010831Impaired proprioception
HP:0010845EEG with generalized slow activity
HP:0011951Aspiration pneumonia
HP:0100543Cognitive impairment
HP:0100639Erectile dysfunction
Очень редкий (1–4%)4
HP:0000407Sensorineural hearing impairment
HP:0000708Atypical behavior
HP:0000726Dementia
HP:0002922Increased CSF protein concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | Worldwide | Family(ies) |
| 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)