← Back to Conditions

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

disorder
SNOMED 39925003CUI C0162671

Overview

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

Clinical Trials

1
Total Trials
0
Recruiting
1
With Results

Recent Trials

Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)

NCT01831934Phase 4Completed22 enrolled
View all 1 trials on ClinicalTrials.gov

Signs & Symptoms

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

Abnormal mitochondria in muscle tissue
Very frequent (80-99%)HP:0008316
Aplasia/Hypoplasia of the cerebral white matter
Very frequent (80-99%)HP:0012429
Difficulty finding words
Very frequent (80-99%)HP:0002381
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Higher than normal levels of lactate in blood
Very frequent (80-99%)HP:0002151
Lacticacidemia
Very frequent (80-99%)HP:0003128
Migraine headache
Very frequent (80-99%)HP:0002076
Muscle weakness
Very frequent (80-99%)HP:0001324
Progressive dementia
Very frequent (80-99%)HP:0000726
Seizures
Very frequent (80-99%)HP:0001250
Stroke-like episode
Very frequent (80-99%)HP:0002401
Widened cerebral subarachnoid space
Very frequent (80-99%)HP:0012766
Ataxia
Frequent (30-79%)HP:0001251
Basal ganglion calcification
Frequent (30-79%)HP:0002135
Decreased body height
Frequent (30-79%)HP:0004322
Depression
Frequent (30-79%)HP:0000716
Diabetes mellitus
Frequent (30-79%)HP:0000819
Elevated csf protein
Frequent (30-79%)HP:0002922
Encephalopathy
Frequent (30-79%)HP:0001298
Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Fluctuations in consciousness
Frequent (30-79%)HP:0007159
Focal seizures
Frequent (30-79%)HP:0007359
Gait disturbance
Frequent (30-79%)HP:0001288
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069
Hemiparesis
Frequent (30-79%)HP:0001269
Impaired visuospatial constructive cognition
Frequent (30-79%)HP:0010794
Increased CSF lactic acid
Frequent (30-79%)HP:0002490
Jerking
Frequent (30-79%)HP:0001336
Memory impairment
Frequent (30-79%)HP:0002354
Myopathy
Frequent (30-79%)HP:0003198

Related Conditions

CVA - Cerebrovascular accident(parent)
Juvenile myopathy AND lactate acidosis(parent)
Soft tissue injury(parent)
Injury of musculoskeletal system(parent)
Injury of muscle(parent)

Quick Facts

SNOMED CT
39925003
UMLS CUI
C0162671
Fully Specified Name
Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Clinical Trials
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.