Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome

disorder

SNOMED 717266001CUI C1843851

Overview

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome is a disorder.

Auto-generated from clinical reference data. 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

Multiple mtDNA deletions

Always present (100%)HP:0003689

Muscle weakness

Always present (100%)HP:0001324

External ophthalmoplegia

Very frequent (80-99%)HP:0000544

Abnormal cerebellar cortex morphology

Frequent (30-79%)HP:0031422

Abnormal thalamic MRI signal intensity

Frequent (30-79%)HP:0012696

Ataxia

Frequent (30-79%)HP:0001251

Atrophic and degenerative changes in the spinal cord

Frequent (30-79%)HP:0007344

Bilateral nerve deafness

Frequent (30-79%)HP:0008619

Decreased activity of cytochrome C oxidase in muscle tissue

Frequent (30-79%)HP:0003688

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Extraocular muscle palsy

Frequent (30-79%)HP:0000597

Eye drop

Frequent (30-79%)HP:0000508

Fiber type grouping

Frequent (30-79%)HP:0033685

Hyporeflexia

Frequent (30-79%)HP:0001265

Impaired distal proprioception

Frequent (30-79%)HP:0006858

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Interictal vestibular dysfunction

Frequent (30-79%)HP:0001751

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Mitral valve prolapse

Frequent (30-79%)HP:0001634

Positive Romberg sign

Frequent (30-79%)HP:0002403

Proximal limb muscle weakness

Frequent (30-79%)HP:0003701

Ragged-red muscle fibers

Frequent (30-79%)HP:0003200

Sensory ataxic neuropathy

Frequent (30-79%)HP:0003434

Upgaze palsy

Frequent (30-79%)HP:0025331

Abnormal finger chase test

Occasional (5-29%)HP:0001310

Related Conditions

Progressive external ophthalmoplegia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the visual system(parent)

Peripheral neuropathy due to metabolic disorder(parent)

Hereditary ataxia(parent)

Hereditary disorder of musculoskeletal system(parent)

Myoneural disorder(parent)

Secondary myopathy(parent)

Nerve palsy(parent)

Quick Facts

SNOMED CT: 717266001
UMLS CUI: C1843851
Fully Specified Name: Sensory ataxic neuropathy with dysarthria and ophthalmoparesis 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.