Autosomal recessive limb girdle muscular dystrophy type 2F

disorder

SNOMED 718177001CUI C1832525

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.

Difficulty walking up stairs

Always present (100%)HP:0003551

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Gait disturbance

Always present (100%)HP:0001288

Proximal neurogenic muscle weakness

Always present (100%)HP:0003701

Symmetrical, proximal limb muscle atrophy

Always present (100%)HP:0007126

Facial palsy

Frequent (30-79%)HP:0010628

Generalised muscle wasting

Frequent (30-79%)HP:0009055

Proximal lower limb muscle atrophy

Frequent (30-79%)HP:0008956

Proximal upper limb amyotrophy

Frequent (30-79%)HP:0008948

Scapula alata

Frequent (30-79%)HP:0003691

Shuffled walk

Frequent (30-79%)HP:0002362

Increased size of calf muscles

HP:0008981

Muscle biopsy shows dystrophic changes

HP:0003560

Positive Gower sign

HP:0003391

Ventricular hypertrophy

HP:0001714

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 718177001
UMLS CUI: C1832525
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2F (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.