Congenital myotonia, autosomal recessive form

disorder

SNOMED 20305008CUI C0751360

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.

Delayed relaxation of muscle fibres after contraction

Always present (100%)HP:0002486

EMG: myotonic runs

Always present (100%)HP:0003730

Muscle weakness

Always present (100%)HP:0001324

Myotonia with warm-up phenomenon

Always present (100%)HP:0003740

Muscle stiffness

Very frequent (80-99%)HP:0003552

Percussion myotonia

Very frequent (80-99%)HP:0010548

Hypertrophic muscles

Frequent (30-79%)HP:0003712

Muscle pain

Frequent (30-79%)HP:0003326

Lid lag on downgaze

Occasional (5-29%)HP:0025605

Deglutition disorder

HP:0002015

Muscle hypertrophy of the lower extremities

HP:0008968

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Myotonia congenita(parent)

Quick Facts

SNOMED CT: 20305008
UMLS CUI: C0751360
Fully Specified Name: Congenital myotonia, autosomal recessive form (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.