Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

disorder

SNOMED 703537008CUI C1970180

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormality of the dorsal column of the spinal cord

Very frequent (80-99%)HP:0011397

Abnormal vocalization

Frequent (30-79%)HP:0002167

Cerebellar abnormality

Frequent (30-79%)HP:0001317

Clumsiness

Frequent (30-79%)HP:0002312

Dysmyelinating leukodystrophy

Frequent (30-79%)HP:0006978

Extensor plantar responses

Frequent (30-79%)HP:0003487

Gait disturbance

Frequent (30-79%)HP:0001288

Loss of ambulation

Frequent (30-79%)HP:0002505

Progressive cerebellar ataxia

Frequent (30-79%)HP:0002073

Spastic ataxia

Frequent (30-79%)HP:0002497

Spasticity, progressive

Frequent (30-79%)HP:0002191

Tremor

Frequent (30-79%)HP:0001337

Unsteady walk

Frequent (30-79%)HP:0002317

Upper motor neuron dysfunction

Frequent (30-79%)HP:0002493

Weakness of outermost muscles

Frequent (30-79%)HP:0002460

Delayed motor milestones

Occasional (5-29%)HP:0001270

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Distal sensory loss, especially vibratory sense

Occasional (5-29%)HP:0002166

Fine motor skill dysfunction

Occasional (5-29%)HP:0007010

Higher than normal levels of lactate in blood

Occasional (5-29%)HP:0002151

Hyporeflexia

Occasional (5-29%)HP:0001265

Impaired distal proprioception

Occasional (5-29%)HP:0006858

Impaired visuospatial constructive cognition

Occasional (5-29%)HP:0010794

Increased CSF lactic acid

Occasional (5-29%)HP:0002490

Intellectual deterioration

Occasional (5-29%)HP:0001268

Intellectual impairment

Occasional (5-29%)HP:0100543

Leg muscle stiffness

Occasional (5-29%)HP:0008969

Reduced tendon reflexes

Occasional (5-29%)HP:0001315

Specific learning disability

Occasional (5-29%)HP:0001328

Deafness

Very rare (1-4%)HP:0000365

Related Conditions

Progressive multifocal leukoencephalopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary degenerative disease of central nervous system(parent)

Quick Facts

SNOMED CT: 703537008
UMLS CUI: C1970180
Fully Specified Name: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.