Autosomal recessive limb girdle muscular dystrophy type 2B

disorder

SNOMED 718179003CUI C1850889

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 wasting

Always present (100%)HP:0003202

Proximal limb muscle weakness

Always present (100%)HP:0003701

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

Loss of ambulation

Very frequent (80-99%)HP:0002505

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Proximal muscle weakness in lower limbs

Frequent (30-79%)HP:0008994

Complete right bundle branch block

Occasional (5-29%)HP:0011712

Difficulty walking up stairs

Occasional (5-29%)HP:0003551

Diminished deep tendon reflexes

Occasional (5-29%)HP:0001315

EKG abnormality

Occasional (5-29%)HP:0003115

Increased heart size

Occasional (5-29%)HP:0001640

Increased size of calf muscles

Occasional (5-29%)HP:0008981

Muscular edema

Occasional (5-29%)HP:0100748

Neck flexion weakness

Occasional (5-29%)HP:0003722

Pes cavus

Occasional (5-29%)HP:0001761

Prominent swayback

Occasional (5-29%)HP:0003307

Proximal muscle weakness in upper limbs

Occasional (5-29%)HP:0008997

Reduced ejection fraction

Occasional (5-29%)HP:0012664

Right ventricular hypertrophy

Occasional (5-29%)HP:0001667

Scapular weakness

Occasional (5-29%)HP:0003691

Brachial plexus neuropathy

Very rare (1-4%)HP:0045054

Choreiform movements

Very rare (1-4%)HP:0002072

Constant urination

Very rare (1-4%)HP:0100515

Deglutition disorder

Very rare (1-4%)HP:0002015

Distal upper limb muscle weakness

Very rare (1-4%)HP:0008959

Inability to walk

Very rare (1-4%)HP:0002540

Limited elbow movement

Very rare (1-4%)HP:0002996

Limited hip movement

Very rare (1-4%)HP:0008800

Limited knee flexion/extension

Very rare (1-4%)HP:0005085

Spinal rigidity

Very rare (1-4%)HP:0003306

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 718179003
UMLS CUI: C1850889
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2B (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.