Metachromatic leukodystrophy, juvenile type

disorder

SNOMED 44359008CUI C0751276

Overview

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

Treatments & Interventions

Atidarsagene autotemcel

substance

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 glycosphingolipid metabolism

Frequent (30-79%)HP:0004343

Abnormal social interactions

Frequent (30-79%)HP:0012433

Abnormal visual evoked responses

Frequent (30-79%)HP:0000649

Ataxia

Frequent (30-79%)HP:0001251

Clumsiness

Frequent (30-79%)HP:0002312

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

Hearing impairment

Frequent (30-79%)HP:0000365

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

Leukodystrophy

Frequent (30-79%)HP:0002415

Loss of acquired milestones

Frequent (30-79%)HP:0002376

Muscle spasm

Frequent (30-79%)HP:0003394

Muscle weakness

Frequent (30-79%)HP:0001324

Neuropathy

Frequent (30-79%)HP:0009830

Optic atrophy

Frequent (30-79%)HP:0000648

Poor attention span

Frequent (30-79%)HP:0000736

Poor vision

Frequent (30-79%)HP:0000505

Punctate periventricular T2 hyperintense foci

Frequent (30-79%)HP:0030081

Seizures

Frequent (30-79%)HP:0001250

Spasticity, progressive

Frequent (30-79%)HP:0002191

Urinary incontinence

Frequent (30-79%)HP:0000020

Addictive behavior

Occasional (5-29%)HP:0030858

Anal incontinence

Occasional (5-29%)HP:0002607

Behavioural/Psychiatric abnormality

Occasional (5-29%)HP:0000708

Related Conditions

Metachromatic leukodystrophy(parent)

Quick Facts

SNOMED CT: 44359008
UMLS CUI: C0751276
Fully Specified Name: Metachromatic leukodystrophy, juvenile type (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.