Autosomal recessive limb girdle muscular dystrophy type 2L

disorder

SNOMED 726616006CUI C1969785

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.

Hip-girdle muscle weakness

Always present (100%)HP:0003749

Distal muscle weakness in lower limbs

Very frequent (80-99%)HP:0009053

limb girdle muscular dystrophy

Very frequent (80-99%)HP:0006785

Muscle pain

Very frequent (80-99%)HP:0003326

Proximal muscle weakness in lower limbs

Very frequent (80-99%)HP:0008994

Proximal neurogenic muscle weakness

Very frequent (80-99%)HP:0003701

Abnormal calf muscles

Frequent (30-79%)HP:0001430

Abnormal skeletal muscle fibre morphology

Frequent (30-79%)HP:0004303

Back knee

Frequent (30-79%)HP:0002816

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

EMG: axonal abnormality

Frequent (30-79%)HP:0003482

EMG: myopathic changes

Frequent (30-79%)HP:0003458

EMG: neuropathic changes

Frequent (30-79%)HP:0003445

EMG: spontaneous, repetitive electrical activity

Frequent (30-79%)HP:0003730

Fatty replacement of skeletal muscle

Frequent (30-79%)HP:0012548

Increased endomysial connective tissue

Frequent (30-79%)HP:0100297

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Internally nucleated skeletal muscle fibers

Frequent (30-79%)HP:0031237

Lower limb amyotrophy

Frequent (30-79%)HP:0007210

Muscle fiber atrophy

Frequent (30-79%)HP:0100295

Muscle fiber splitting

Frequent (30-79%)HP:0003555

Muscle pain with exercise

Frequent (30-79%)HP:0003738

Pelvic girdle muscle wasting

Frequent (30-79%)HP:0008988

Proximal muscle weakness in upper limbs

Frequent (30-79%)HP:0008997

Wasting of quad muscles

Frequent (30-79%)HP:0009050

Amyotrophy involving the upper limbs

Occasional (5-29%)HP:0009129

Ankle flexion contracture

Occasional (5-29%)HP:0006466

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Facial muscle weakness of muscles innervated by CN VII

Occasional (5-29%)HP:0010628

Fixed flexion at the elbow joint

Occasional (5-29%)HP:0002987

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 726616006
UMLS CUI: C1969785
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2L (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.