Autosomal dominant limb girdle muscular dystrophy type 1D

disorder

SNOMED 719987009CUI C3501858

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.

Muscle weakness, generalised

Very frequent (80-99%)HP:0003324

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Fatty replacement of skeletal muscle

Occasional (5-29%)HP:0012548

Loss of ambulation

Occasional (5-29%)HP:0002505

Muscle biopsy: fibrosis

Occasional (5-29%)HP:0030951

Myofibrillar myopathy

Occasional (5-29%)HP:0003715

Rimmed vacuoles

Occasional (5-29%)HP:0003805

Abnormal skeletal muscle fibre morphology

Very rare (1-4%)HP:0004303

Percussion myotonia

Very rare (1-4%)HP:0010548

Related Conditions

Autosomal dominant muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 719987009
UMLS CUI: C3501858
Fully Specified Name: Autosomal dominant limb girdle muscular dystrophy type 1D (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.