Autosomal recessive limb girdle muscular dystrophy type 2Y

disorder

SNOMED 725907002CUI C4511482

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.

Central nuclei

Always present (100%)HP:0003687

Decreased FEF25-75%

Always present (100%)HP:0032359

Increased endomysial connective tissue

Always present (100%)HP:0100297

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Muscle weakness

Always present (100%)HP:0001324

Ankle flexion contracture

Frequent (30-79%)HP:0006466

Contracture of the distal interphalangeal joint of the fingers

Frequent (30-79%)HP:0009697

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

Distal limb muscle weakness due to peripheral neuropathy

Frequent (30-79%)HP:0002460

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Interosseous muscular atrophy

Frequent (30-79%)HP:0007181

Joint contracture

Frequent (30-79%)HP:0034392

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Spinal rigidity

Frequent (30-79%)HP:0003306

Ventricular extrasystoles

Frequent (30-79%)HP:0006682

Muscular dystrophy

HP:0003560

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 725907002
UMLS CUI: C4511482
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2Y (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.