Déjérine-Sottas disease

disorder

SNOMED 111499002CUI C0011195

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.

Absent tendon reflexes

Always present (100%)HP:0001284

Cobb angle greater than ten degrees

Always present (100%)HP:0002650

Decreased distal vibration sense

Always present (100%)HP:0006886

Decreased motor nerve conduction velocity

Always present (100%)HP:0003431

Decreased sensory NCV

Always present (100%)HP:0003448

Delayed motor milestones

Always present (100%)HP:0001270

Distal muscle weakness in lower limbs

Always present (100%)HP:0009053

Dropped arches

Always present (100%)HP:0001763

Myelin tomacula

Always present (100%)HP:0030175

Onion bulb formation

Always present (100%)HP:0003383

Peripheral demyelination

Always present (100%)HP:0011096

Proximal limb muscle weakness

Always present (100%)HP:0003701

Segmental peripheral demyelination/remyelination

Always present (100%)HP:0003481

Spinal ataxia

Always present (100%)HP:0010871

Tongue fasciculations/fibrillations

Always present (100%)HP:0001308

Wide based walk

Always present (100%)HP:0002136

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Cavus foot

HP:0001761

Central hypotonia

HP:0001252

Decreased number of large and small myelinated fibres

HP:0003380

Distal muscle atrophy, upper and lower limbs

HP:0003693

Elevated csf protein

HP:0002922

Hammertoe

HP:0001765

Hypertrophic nerve changes

HP:0003382

Hyporeflexia

HP:0001265

Inability to heel walk

HP:0009027

Kyphoscoliosis

HP:0002751

Loss of distal sensation

HP:0002936

Split hand

HP:0001171

Steppage gait

HP:0003376

Related Conditions

Hypertrophic interstitial neuropathy(parent)

Hereditary motor and sensory neuropathy(parent)

Quick Facts

SNOMED CT: 111499002
UMLS CUI: C0011195
Fully Specified Name: Déjérine-Sottas disease (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.