Calpain-3-related limb girdle muscular dystrophy D4

disorder

SNOMED 1279886003CUI C4748295

Overview

Calpain-3-related limb girdle muscular dystrophy D4 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Back pain

HP:0003418

Central nuclei

HP:0003687

Elevated circulating creatine phosphokinase

HP:0003236

Fatty replacement of skeletal muscle

HP:0012548

Gait disturbance

HP:0001288

Increased variation in muscle fibre size

HP:0003557

Lax abdominal musculature

HP:0009023

Muscle fiber splitting

HP:0003555

Muscle pain

HP:0003326

Myopathy

HP:0003198

Prominent swayback

HP:0003307

Proximal limb muscle weakness

HP:0003701

Scapular weakness

HP:0003691

Symmetrical, proximal limb muscle atrophy

HP:0007126

Related Conditions

Autosomal dominant muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 1279886003
UMLS CUI: C4748295
Fully Specified Name: Calpain-3-related limb girdle muscular dystrophy D4 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.