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MEPAN syndrome

disorder
SNOMED 1236805005CUI C4310634

Overview

By MedlinePlus, National Library of Medicine

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

Signs & Symptoms

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

Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Dystonic movements
Very frequent (80-99%)HP:0001332
Striatal T2 hyperintensity
Very frequent (80-99%)HP:0031206
Decreased visual acuity
Frequent (30-79%)HP:0007663
Delayed motor milestones
Frequent (30-79%)HP:0001270
Distorted craniofacial posture
Frequent (30-79%)HP:0012179
Dyskinesia
Frequent (30-79%)HP:0100660
Gait disturbance
Frequent (30-79%)HP:0001288
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Limb dystonia
Frequent (30-79%)HP:0002451
Optic atrophy
Frequent (30-79%)HP:0000648
Poor vision
Frequent (30-79%)HP:0000505
Abnormal visual evoked responses
Occasional (5-29%)HP:0000649
Ataxia
Occasional (5-29%)HP:0001251
Athetoid movements
Occasional (5-29%)HP:0002305
Axial dystonia
Occasional (5-29%)HP:0002530
Choreiform movements
Occasional (5-29%)HP:0002072
Clumsiness
Occasional (5-29%)HP:0002312
Decreased activity of mitochondrial complex IV
Occasional (5-29%)HP:0008347
Degeneration of cerebrum
Occasional (5-29%)HP:0002059
Deglutition disorder
Occasional (5-29%)HP:0002015
Delayed gross motor development
Occasional (5-29%)HP:0002194
Elevated brain lactate level by MRS
Occasional (5-29%)HP:0012707
Esophoria
Occasional (5-29%)HP:0025312
Extensor plantar responses
Occasional (5-29%)HP:0003487
Feeding difficulties
Occasional (5-29%)HP:0011968
Headache
Occasional (5-29%)HP:0002315
Hemidystonia
Occasional (5-29%)HP:0032005
Increased reflexes
Occasional (5-29%)HP:0001347
Infratentorial atrophy
Occasional (5-29%)HP:0001272

Related Conditions

Inherited metabolic disorder of nervous system(parent)
Mitochondrial cytopathy(parent)
Hereditary optic atrophy(parent)
Generalized dystonia(parent)
Disorder of basal ganglia(parent)
Recessive hereditary disorder (autosomal)(parent)
Chronic metabolic disease(parent)
Chronic brain syndrome(parent)

Quick Facts

SNOMED CT
1236805005
UMLS CUI
C4310634
Fully Specified Name
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (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.