Autosomal dominant limb-girdle muscular dystrophy type 1H

disorder

SNOMED 771334000CUI C3150786

Overview

Autosomal dominant limb-girdle muscular dystrophy type 1H 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.

Central nuclei

Occasional (5-29%)HP:0003687

Congenital muscular dystrophy

HP:0003560

Elevated serum creatine phosphokinase

HP:0003236

Hyporeflexia

HP:0001265

Increased connective tissue

HP:0009025

Increased size of calf muscles

HP:0008981

Muscle weakness

HP:0001324

Proximal limb muscle weakness

HP:0003701

Shoulder girdle muscle wasting

HP:0003724

Related Conditions

Autosomal dominant muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 771334000
UMLS CUI: C3150786
Fully Specified Name: Autosomal dominant limb-girdle muscular dystrophy type 1H (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.

Autosomal dominant limb-girdle muscular dystrophy type 1H — Symptoms, Testing & Specialists | Ltrl | Healos