Muscular dystrophy Selcen type

disorder

SNOMED 723407009CUI C2751831

Overview

Muscular dystrophy Selcen type is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

EMG: myopathic changes

Always present (100%)HP:0003458

Respiratory insufficiency

Always present (100%)HP:0002093

Axial muscle weakness

Frequent (30-79%)HP:0003327

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Demyelinating peripheral neuropathy

Frequent (30-79%)HP:0007108

Easy fatigability

Frequent (30-79%)HP:0003388

Hypernasal voice

Frequent (30-79%)HP:0001611

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Mitral regurgitation, mild

Frequent (30-79%)HP:0001653

Muscle weakness, generalised

Frequent (30-79%)HP:0003324

Paralysed diaphragm

Frequent (30-79%)HP:0006597

Pes valgus

Frequent (30-79%)HP:0008081

Proximal limb muscle weakness

Frequent (30-79%)HP:0003701

Reduced forced vital capacity

Frequent (30-79%)HP:0032341

Restrictive cardiomyopathy

Frequent (30-79%)HP:0001723

Restrictive lung disease

Frequent (30-79%)HP:0002091

Scapula alata

Frequent (30-79%)HP:0003691

Spinal rigidity

Frequent (30-79%)HP:0003306

Thoracic scoliosis

Frequent (30-79%)HP:0002943

Walking on tiptoes

Frequent (30-79%)HP:0030051

Weakness of outermost muscles

Frequent (30-79%)HP:0002460

Axonal loss

HP:0003447

Cavus foot

HP:0001761

Facial muscle weakness of muscles innervated by CN VII

HP:0010628

Hyporeflexia

HP:0001265

Inability to straighten knee

HP:0006380

Loss of distal sensation

HP:0002936

Muscle atrophy, generalised

HP:0003700

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Myofibrillar myopathy(parent)

Quick Facts

SNOMED CT: 723407009
UMLS CUI: C2751831
Fully Specified Name: Muscular dystrophy Selcen type (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.