Autosomal recessive limb girdle muscular dystrophy type 2I

disorder

SNOMED 718180000CUI C1846672

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.

Proximal limb muscle weakness

Very frequent (80-99%)HP:0003701

Reduced muscle fiber alpha dystroglycan

Very frequent (80-99%)HP:0030099

Abnormality of the calcaneal tendon

Frequent (30-79%)HP:0005109

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hip-girdle muscle weakness

Frequent (30-79%)HP:0003749

Increased size of calf muscles

Frequent (30-79%)HP:0008981

Shoulder girdle muscle weakness

Frequent (30-79%)HP:0003547

Waddling gait

Frequent (30-79%)HP:0002515

Delayed motor milestones

Occasional (5-29%)HP:0001270

Difficulty running

Occasional (5-29%)HP:0009046

Difficulty walking up stairs

Occasional (5-29%)HP:0003551

Exercise-induced myoglobinuria

Occasional (5-29%)HP:0008305

Frequent falls

Occasional (5-29%)HP:0002359

Reduced muscle fibre merosin

Occasional (5-29%)HP:0030092

Scoliosis

Occasional (5-29%)HP:0002650

Stretched and thinned heart muscle

Occasional (5-29%)HP:0001644

Achilles tendon contracture

HP:0001771

Elevated circulating creatine phosphokinase

HP:0003236

Gait disturbance

HP:0001288

Hunched back

HP:0002808

Left ventricular failure

HP:0005162

Lingual hyperplasia

HP:0000158

Muscle pain

HP:0003326

Muscle spasm

HP:0003394

Muscular dystrophy

HP:0003560

Nocturnal under breathing

HP:0002877

Prominent swayback

HP:0003307

Reduced forced vital capacity

HP:0032341

Restrictive lung disease

HP:0002091

Thigh hypertrophy

HP:0003733

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 718180000
UMLS CUI: C1846672
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2I (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.