Tibial muscular dystrophy

disorder

SNOMED 698846009CUI C1450052

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.

Tibialis anterior amyotrophy

Always present (100%)HP:0011399

Tibialis muscle weakness

Always present (100%)HP:0008963

Ankle weakness

Frequent (30-79%)HP:0031374

Central nuclei

Frequent (30-79%)HP:0003687

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Gait disturbance

Frequent (30-79%)HP:0001288

Inability to heel walk

Frequent (30-79%)HP:0009027

Increased muscle lipid content

Frequent (30-79%)HP:0009058

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Mildly elevated creatine kinase

Frequent (30-79%)HP:0008180

Myopathy

Frequent (30-79%)HP:0003198

Peroneal muscle atrophy

Frequent (30-79%)HP:0009049

Rimmed vacuoles

Frequent (30-79%)HP:0003805

Steppage gait

Frequent (30-79%)HP:0003376

Clumsiness

Occasional (5-29%)HP:0002312

Proximal muscle weakness in lower limbs

Occasional (5-29%)HP:0008994

Quadriceps weakness

Occasional (5-29%)HP:0003731

Distal upper limb muscle weakness

Very rare (1-4%)HP:0008959

Congenital muscular dystrophy

HP:0003560

Disease of the heart muscle

Excluded (<1%)HP:0001638

Related Conditions

Disorder of lower leg(parent)

Distal muscular dystrophy(parent)

Disorder of soft tissue of lower limb(parent)

Degenerative disorder of extremity(parent)

Quick Facts

SNOMED CT: 698846009
UMLS CUI: C1450052
Fully Specified Name: Tibial muscular dystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.