Alpha-sarcoglycanopathy LGMD2D (limb girdle muscular dystrophy type 2D)

disorder

SNOMED 715340002CUI C2936332

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.

Ankle flexion contracture

Always present (100%)HP:0006466

Cardiac insufficiency

Always present (100%)HP:0001635

Disease of the heart muscle

Always present (100%)HP:0001638

EMG: myopathic changes

Always present (100%)HP:0003458

Increased endomysial connective tissue

Always present (100%)HP:0100297

Increased size of calf muscles

Always present (100%)HP:0008981

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Limb-girdle muscle weakness

Always present (100%)HP:0003325

Muscle fibre necrosis

Always present (100%)HP:0003713

Stretched and thinned heart muscle

Always present (100%)HP:0001644

Achilles tendon contracture

Frequent (30-79%)HP:0001771

Calf muscle pseudohypertrophy

Frequent (30-79%)HP:0003707

Congenital muscular dystrophy

Frequent (30-79%)HP:0003560

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Frequent falls

Frequent (30-79%)HP:0002359

Gowers sign

Frequent (30-79%)HP:0003391

Limited shoulder movement

Frequent (30-79%)HP:0006467

Prominent swayback

Frequent (30-79%)HP:0003307

Proximal neurogenic muscle weakness

Frequent (30-79%)HP:0003701

Scapular weakness

Frequent (30-79%)HP:0003691

Waddling gait

Frequent (30-79%)HP:0002515

Walking on tiptoes

Frequent (30-79%)HP:0030051

Scoliosis

Occasional (5-29%)HP:0002650

Thoracic scoliosis

Occasional (5-29%)HP:0002943

Flexion contractures

HP:0001371

limb girdle muscular dystrophy

HP:0006785

Limb-girdle myopathy

HP:0003797

Unsteady walk

HP:0002317

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 715340002
UMLS CUI: C2936332
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2D (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.