Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
ORPHA:137898DiseaseAutosomal recessiveAdolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)1
HP:0011397Abnormality of the dorsal column of the spinal cord
Частый (30–79%)15
HP:0003487Babinski sign
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001317Abnormal cerebellum morphology
HP:0001337Tremor
HP:0002073Progressive cerebellar ataxia
HP:0002167Abnormality of speech or vocalization
HP:0002191Progressive spasticity
HP:0002312Clumsiness
HP:0002317Unsteady gait
HP:0002460Distal muscle weakness
HP:0002493Upper motor neuron dysfunction
HP:0002497Spastic ataxia
HP:0002505Loss of ambulation
HP:0006978Dysmyelinating leukodystrophy
Периодический (5–29%)13
HP:0001265Hyporeflexia
HP:0001268Mental deterioration
HP:0001270Motor delay
HP:0001315Reduced tendon reflexes
HP:0001328Specific learning disability
HP:0002151Increased circulating lactate concentration
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002490Increased CSF lactate
HP:0003477Peripheral axonal neuropathy
HP:0006858Impaired distal proprioception
HP:0007010Poor fine motor coordination
HP:0008969Leg muscle stiffness
HP:0010794Impaired visuospatial constructive cognition
Очень редкий (1–4%)21
HP:0000365Hearing impairment
HP:0000508Ptosis
HP:0000514Slow saccadic eye movements
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000651Diplopia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001271Polyneuropathy
HP:0001272Cerebellar atrophy
HP:0001276Hypertonia
HP:0001344Absent speech
HP:0001350Slurred speech
HP:0001371Flexion contracture
HP:0002059Cerebral atrophy
HP:0002078Truncal ataxia
HP:0002079Hypoplasia of the corpus callosum
HP:0005340Spastic/hyperactive bladder
HP:0007668Impaired pursuit initiation and maintenance
HP:0009055Generalized limb muscle atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 127 | Worldwide | Case(s) |
| 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)