Congenital myopathy with reduced type II muscle fibres

disorder

SNOMED 1255274002CUI C5193081

Overview

Congenital myopathy with reduced type II muscle fibres 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

Always present (100%)HP:0003327

Increased endomysial connective tissue

Always present (100%)HP:0100297

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Muscular hypotonia

Always present (100%)HP:0001252

Respiratory failure

Always present (100%)HP:0002878

Respiratory failure due to muscle weakness

Always present (100%)HP:0002747

Weakness of face

Always present (100%)HP:0030319

Apnea

Frequent (30-79%)HP:0002104

Areflexia

Frequent (30-79%)HP:0001284

EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

Frequent (30-79%)HP:0003403

Feeding difficulties

Frequent (30-79%)HP:0011968

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Flaccid neck

Frequent (30-79%)HP:0000467

Flexion contractures of hips

Frequent (30-79%)HP:0003273

Flexion contractures of knees

Frequent (30-79%)HP:0006380

Head lag

Frequent (30-79%)HP:0032988

High arched palate

Frequent (30-79%)HP:0000218

Hydramnios

Frequent (30-79%)HP:0001561

Less than 10 fetal movements in 12 hours

Frequent (30-79%)HP:0001558

Muscle weakness, generalised

Frequent (30-79%)HP:0003324

Myopathic facial appearance

Frequent (30-79%)HP:0002058

Nasogastric tube feeding

Frequent (30-79%)HP:0040288

Proximal limb muscle weakness

Frequent (30-79%)HP:0003701

Type 1 muscle fiber predominance

Frequent (30-79%)HP:0003803

Abnormal levels of creatine kinase in blood

Excluded (<1%)HP:0040081

Delayed motor milestones

HP:0001270

Flexion contractures

HP:0001371

Related Conditions

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Myopathy with abnormality of histochemical fibre type(parent)

Quick Facts

SNOMED CT: 1255274002
UMLS CUI: C5193081
Fully Specified Name: Congenital myopathy with reduced type 2 muscle fibers (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.