Progressive scapulohumeroperoneal distal myopathy

disorder

SNOMED 1217226000CUI C4225181

Overview

Progressive scapulohumeroperoneal distal myopathy 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.

Increased connective tissue

Always present (100%)HP:0009025

Neck flexion weakness

Always present (100%)HP:0003722

Scapula alata

Very frequent (80-99%)HP:0003691

Wrist drop

Very frequent (80-99%)HP:0031189

Absent tendon reflexes

HP:0001284

Achilles tendon contracture

HP:0001771

Central nuclei

HP:0003687

Facial palsy

HP:0010628

Hand muscle atrophy

HP:0009130

Hyporeflexia

HP:0001265

Inability to heel walk

HP:0009027

Increased variation in muscle fibre size

HP:0003557

Muscle wasting

HP:0003202

Nemaline rods

Excluded (<1%)HP:0003798

Progressive muscle weakness

HP:0003323

Prominent swayback

HP:0003307

Reduced tendon reflexes

HP:0001315

Scoliosis

Excluded (<1%)HP:0002650

Related Conditions

Autosomal dominant hereditary disorder(parent)

Distal muscular dystrophy(parent)

Quick Facts

SNOMED CT: 1217226000
UMLS CUI: C4225181
Fully Specified Name: Progressive scapulohumeroperoneal distal myopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.