Autosomal dominant limb girdle muscular dystrophy type 1F

disorder

SNOMED 719989007CUI C1842062

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.

Elevated circulating creatine concentration

Always present (100%)HP:0034291

Hip-girdle muscle weakness

Always present (100%)HP:0003749

Shoulder girdle muscle weakness

Always present (100%)HP:0003547

Distal limb muscle weakness due to peripheral neuropathy

Very frequent (80-99%)HP:0002460

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

Delayed ability to walk

Occasional (5-29%)HP:0031936

Delayed motor milestones

Occasional (5-29%)HP:0001270

Eye drop

Occasional (5-29%)HP:0000508

Joint contracture

Occasional (5-29%)HP:0034392

Respiratory failure due to muscle weakness

Occasional (5-29%)HP:0002747

Spinal rigidity

Occasional (5-29%)HP:0003306

Autophagic vacuoles

HP:0003736

Central nuclei

HP:0003687

Congenital muscular dystrophy

HP:0003560

Difficulty running

HP:0009046

EMG: myopathic changes

HP:0003458

Increased endomysial connective tissue

HP:0100297

Rimmed vacuoles

HP:0003805

Scapular weakness

HP:0003691

Related Conditions

Autosomal dominant muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 719989007
UMLS CUI: C1842062
Fully Specified Name: Autosomal dominant limb girdle muscular dystrophy type 1F (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.