Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal glycosphingolipid metabolism
Frequent (30-79%)HP:0004343
Abnormal social interactions
Frequent (30-79%)HP:0012433
Clumsiness
Frequent (30-79%)HP:0002312
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Delusions
Frequent (30-79%)HP:0000746
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dystonic movements
Frequent (30-79%)HP:0001332
Elevated csf protein
Frequent (30-79%)HP:0002922
Emotional lability
Frequent (30-79%)HP:0000712
Frequent falls
Frequent (30-79%)HP:0002359
Gait disturbance
Frequent (30-79%)HP:0001288
Hallucinations
Frequent (30-79%)HP:0000738
Hyporeflexia
Frequent (30-79%)HP:0001265
Leukodystrophy
Frequent (30-79%)HP:0002415
Memory impairment
Frequent (30-79%)HP:0002354
Mental deterioration in childhood
Frequent (30-79%)HP:0002376
Muscle weakness
Frequent (30-79%)HP:0001324
Optic atrophy
Frequent (30-79%)HP:0000648
Poor attention span
Frequent (30-79%)HP:0000736
Progressive dementia
Frequent (30-79%)HP:0000726
Punctate periventricular T2 hyperintense foci
Frequent (30-79%)HP:0030081
Abnormal visual evoked responses
Occasional (5-29%)HP:0000649
Anal incontinence
Occasional (5-29%)HP:0002607
Belly bloating
Occasional (5-29%)HP:0003270
Bilateral nerve deafness
Occasional (5-29%)HP:0008619
Bulbar signs
Occasional (5-29%)HP:0002483
Choreatic disease
Occasional (5-29%)HP:0002072
Decreased visual acuity
Occasional (5-29%)HP:0007663
Depression
Occasional (5-29%)HP:0000716
EMG: chronic denervation signs
Occasional (5-29%)HP:0003444
Related Conditions
Quick Facts
- SNOMED CT
- 24326000
- UMLS CUI
- C0751279
- Fully Specified Name
- Metachromatic leukodystrophy, adult type (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.