Autosomal recessive limb girdle muscular dystrophy type 2N

disorder

SNOMED 726617002CUI C3150418

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.

Hypertrophic muscles

Always present (100%)HP:0003712

Proximal limb muscle weakness

Always present (100%)HP:0003701

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

limb girdle muscular dystrophy

Very frequent (80-99%)HP:0006785

Reduced muscle fiber alpha dystroglycan

Very frequent (80-99%)HP:0030099

Cognitive deficits

Frequent (30-79%)HP:0100543

Delayed gross motor development

Frequent (30-79%)HP:0002194

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

Fatigable weakness of skeletal muscles

Frequent (30-79%)HP:0030197

Gait disturbance

Frequent (30-79%)HP:0001288

Specific learning disability

Frequent (30-79%)HP:0001328

Symmetrical, proximal limb muscle atrophy

Frequent (30-79%)HP:0007126

Complete right bundle branch block

Occasional (5-29%)HP:0011712

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Frontal cortex degeneration

Occasional (5-29%)HP:0006913

Inability to walk

Occasional (5-29%)HP:0002540

Increased size of calf muscles

Occasional (5-29%)HP:0008981

Left ventricular systolic dysfunction

Occasional (5-29%)HP:0025169

Mental and motor retardation

Occasional (5-29%)HP:0001263

Scapula alata

Occasional (5-29%)HP:0003691

Scapuloperoneal atrophy

Occasional (5-29%)HP:0003697

Stretched and thinned heart muscle

Occasional (5-29%)HP:0001644

Delayed motor milestones

HP:0001270

Muscular dystrophy

HP:0003560

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 726617002
UMLS CUI: C3150418
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2N (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.