Werdnig-Hoffmann disease

disorder

SNOMED 64383006CUI C5848259

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.

Decreased fetal movement

Frequent (30-79%)HP:0001558

Absent deep tendon reflexes

HP:0001284

Atria septal defect

HP:0001631

Delay in head control

HP:0002421

EMG: neuropathic changes

HP:0003445

Generalised decreased muscle tone

HP:0001290

Proximal muscle weakness in lower limbs

HP:0008994

Respiratory failure

HP:0002878

respiratory infections, recurrent

HP:0002205

Respiratory insufficiency

HP:0002093

Spinal muscle wasting

HP:0007269

Symmetrical, proximal limb muscle atrophy

HP:0007126

Tongue fasciculations/fibrillations

HP:0001308

VSD

HP:0001629

Related Conditions

Spinal muscular atrophy(parent)

Recessive hereditary disorder (autosomal)(parent)

Anterior horn cell disease(parent)

Quick Facts

SNOMED CT: 64383006
UMLS CUI: C5848259
Fully Specified Name: Werdnig-Hoffmann disease (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.