Overview
By MedlinePlus, National Library of Medicine
NIH: National Institute of Neurological Disorders and Stroke Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Periventricular leukomalacia
Very frequent (80-99%)HP:0006970
Abnormal visual evoked responses
Frequent (30-79%)HP:0000649
Ataxia
Frequent (30-79%)HP:0001251
Deafness
Frequent (30-79%)HP:0000365
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Elevated csf protein
Frequent (30-79%)HP:0002922
Frequent falls
Frequent (30-79%)HP:0002359
Gait disturbance
Frequent (30-79%)HP:0001288
Hyperintensity of cerebral white matter on MRI
Frequent (30-79%)HP:0030890
Hyporeflexia
Frequent (30-79%)HP:0001265
Hypotonia, early
Frequent (30-79%)HP:0008947
Impaired vision
Frequent (30-79%)HP:0000505
Muscle spasm
Frequent (30-79%)HP:0003394
Muscle weakness
Frequent (30-79%)HP:0001324
Neurodevelopmental regression
Frequent (30-79%)HP:0002376
Neuropathy
Frequent (30-79%)HP:0009830
Seizures
Frequent (30-79%)HP:0001250
Spasticity, progressive
Frequent (30-79%)HP:0002191
Addictive behavior
Occasional (5-29%)HP:0030858
Anal incontinence
Occasional (5-29%)HP:0002607
Behavioral changes
Occasional (5-29%)HP:0000708
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Dystonic disease
Occasional (5-29%)HP:0001332
Emotional lability
Occasional (5-29%)HP:0000712
Feeding difficulties
Occasional (5-29%)HP:0011968
Impaired continence
Occasional (5-29%)HP:0031064
Incoordination
Occasional (5-29%)HP:0002311
Limb pain
Occasional (5-29%)HP:0009763
Pain
Occasional (5-29%)HP:0012531
Related Conditions
Severe deficiency of arylsulfatase(child)
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator(child)
Metachromatic leukodystrophy, adult type(child)
Metachromatic leukodystrophy, congenital type(child)
Metachromatic leukodystrophy, juvenile type(child)
Metachromatic leukodystrophy, late infantile type(child)
Sphingolipid activator protein 1 deficiency(child)
Metachromatic leukodystrophy without arylsulfatase deficiency(child)
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency(child)
Dystonia due to metachromatic leukodystrophy(child)
Sphingolipidosis(parent)
Leucodystrophy(parent)
Hereditary degenerative disease of central nervous system(parent)
Recessive hereditary disorder (autosomal)(parent)
Inherited metabolic disorder of nervous system(parent)
Quick Facts
- SNOMED CT
- 396338004
- UMLS CUI
- C0023522
- Fully Specified Name
- Metachromatic leucodystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Known Treatments
- 1
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.