Autosomal recessive limb girdle muscular dystrophy type 2G

disorder

SNOMED 720522001CUI C1866008

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.

Areflexia in lower limbs

HP:0002522

Difficulty running

HP:0009046

Difficulty walking up stairs

HP:0003551

Distal muscle weakness in lower limbs

HP:0009053

Elevated circulating creatine phosphokinase

HP:0003236

Gait disturbance

HP:0001288

Inability to heel walk

HP:0009027

Increased connective tissue

HP:0009025

Increased size of calf muscles

HP:0008981

Increased variation in muscle fibre size

HP:0003557

Lower limb atrophy

HP:0008944

Muscle biopsy shows dystrophic changes

HP:0003560

Proximal muscle weakness in lower limbs

HP:0008994

Proximal muscle weakness in upper limbs

HP:0008997

Proximal upper limb amyotrophy

HP:0008948

Rimmed vacuoles

HP:0003805

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 720522001
UMLS CUI: C1866008
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2G (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.