Autosomal recessive limb girdle muscular dystrophy type 2A

disorder

SNOMED 715341003CUI C1869123

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.

Eosinophilic infiltration of skeletal muscle

Always present (100%)HP:0032019

Muscle weakness, generalised

Very frequent (80-99%)HP:0003324

Ankle flexion contracture

Frequent (30-79%)HP:0006466

Clumsiness

Frequent (30-79%)HP:0002312

Congenital finger contractures

Frequent (30-79%)HP:0005879

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

Eosinophilia

Frequent (30-79%)HP:0001880

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Flexion contractures

Frequent (30-79%)HP:0001371

Gait disturbance

Frequent (30-79%)HP:0001288

Hamstring contractures

Frequent (30-79%)HP:0003089

Increased size of calf muscles

Frequent (30-79%)HP:0008981

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Muscle biopsy shows dystrophic changes

Frequent (30-79%)HP:0003560

Pelvic girdle amyotrophy

Frequent (30-79%)HP:0008946

Prominent swayback

Frequent (30-79%)HP:0003307

Proximal limb muscle weakness

Frequent (30-79%)HP:0003701

Scapular muscle atrophy

Frequent (30-79%)HP:0009060

Scapular weakness

Frequent (30-79%)HP:0003691

Spinal rigidity

Frequent (30-79%)HP:0003306

Walking on tiptoes

Frequent (30-79%)HP:0030051

Wasting of pec muscles

Frequent (30-79%)HP:0012037

Difficulty walking up stairs

Occasional (5-29%)HP:0003551

Facial muscle weakness of muscles innervated by CN VII

Occasional (5-29%)HP:0010628

Wrist contracture

Occasional (5-29%)HP:0001239

Muscle inflammation

HP:0100614

Symmetrical, proximal limb muscle atrophy

HP:0007126

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 715341003
UMLS CUI: C1869123
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2A (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.