Desminopathy

disorder

SNOMED 770627003CUI C1832370

Overview

Desminopathy 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.

Axial muscle weakness

Very frequent (80-99%)HP:0003327

Distal muscle weakness in lower limbs

Very frequent (80-99%)HP:0009053

Progressive muscle weakness

Very frequent (80-99%)HP:0003323

Chronic heart failure

Frequent (30-79%)HP:0001635

Fatigable weakness of respiratory muscles

Frequent (30-79%)HP:0030196

Gait disturbance

Frequent (30-79%)HP:0001288

Interruption of electrical communication between upper and lower chambers of heart

Frequent (30-79%)HP:0001678

Loss of ambulation

Frequent (30-79%)HP:0002505

Respiratory failure due to muscle weakness

Frequent (30-79%)HP:0002747

Supraventricular arrhythmias

Frequent (30-79%)HP:0005115

Symmetric, concentric, hypertrophic cardiomyopathy

Frequent (30-79%)HP:0005157

Areflexia in lower limbs

Occasional (5-29%)HP:0002522

Bradycardia

Occasional (5-29%)HP:0001662

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Fatigable weakness of bulbar muscles

Occasional (5-29%)HP:0030192

Neck flexion weakness

Occasional (5-29%)HP:0003722

Restrictive cardiomyopathy

Occasional (5-29%)HP:0001723

Stretched and thinned heart muscle

Occasional (5-29%)HP:0001644

Sudden cardiac death

Occasional (5-29%)HP:0001645

Third-degree heart block

Occasional (5-29%)HP:0001709

Thoracic kyphoscoliosis

Occasional (5-29%)HP:0005659

Weakness of face

Occasional (5-29%)HP:0030319

Spinal rigidity

Very rare (1-4%)HP:0003306

Bulbar muscle weakness

HP:0001283

Constipation

HP:0002019

Diarrhea

HP:0002014

Distal limb muscle weakness due to peripheral neuropathy

HP:0002460

EMG: myopathic changes

HP:0003458

Facial muscle weakness of muscles innervated by CN VII

HP:0010628

Flaccid neck

HP:0000467

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Myofibrillar myopathy(parent)

Autosomal dominant hereditary disorder(parent)

Myopathy with cytoplasmic inclusions(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 770627003
UMLS CUI: C1832370
Fully Specified Name: Desmin-related myofibrillar myopathy (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.