MEMSA - myoclonic epilepsy myopathy sensory ataxia

disorder

SNOMED 699328003CUI C1843852

Overview

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

Signs & Symptoms

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

External ophthalmoplegia, progressive

Always present (100%)HP:0000590

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Multiple mtDNA deletions

Always present (100%)HP:0003689

Muscle weakness

Always present (100%)HP:0001324

Ragged-red muscle fibers

Always present (100%)HP:0003200

CPEO

Very frequent (80-99%)HP:0000544

Abnormal finger chase test

Frequent (30-79%)HP:0001310

Absent tendon reflexes

Frequent (30-79%)HP:0001284

Acute liver failure

Frequent (30-79%)HP:0006554

Ataxia

Frequent (30-79%)HP:0001251

Cerebral infarct

Frequent (30-79%)HP:0025722

Decreased activity of cytochrome C oxidase in muscle tissue

Frequent (30-79%)HP:0003688

Deglutition disorder

Frequent (30-79%)HP:0002015

Depression

Frequent (30-79%)HP:0000716

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dysdiadochokinesis

Frequent (30-79%)HP:0002075

Dystonic movements

Frequent (30-79%)HP:0001332

EEG with occipital epileptiform discharges

Frequent (30-79%)HP:0033720

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

Extraocular muscle palsy

Frequent (30-79%)HP:0000597

Eye drop

Frequent (30-79%)HP:0000508

Fiber type grouping

Frequent (30-79%)HP:0033685

Focal T2 hyperintense thalamic lesion

Frequent (30-79%)HP:0012692

Gaze-evoked nystagmus

Frequent (30-79%)HP:0000640

Hemianopia

Frequent (30-79%)HP:0012377

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Increased serum alanine

Frequent (30-79%)HP:0003348

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Migraine headache

Frequent (30-79%)HP:0002076

Mitral valve prolapse

Frequent (30-79%)HP:0001634

Related Conditions

Spinocerebellar disease(parent)

Depletion of mitochondrial DNA(parent)

Hereditary cerebellar degeneration(parent)

Recessive hereditary disorder (autosomal)(parent)

Inherited metabolic disorder of nervous system(parent)

Quick Facts

SNOMED CT: 699328003
UMLS CUI: C1843852
Fully Specified Name: Myoclonic epilepsy myopathy sensory ataxia (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.