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Congenital myotonia, autosomal dominant form

disorder
SNOMED 57938005CUI C2936781

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.

Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Delayed relaxation of muscle fibres after contraction
Very frequent (80-99%)HP:0002486
EMG: myotonic discharges
Very frequent (80-99%)HP:0100284
Muscle stiffness
Very frequent (80-99%)HP:0003552
Myotonia with warm-up phenomenon
Very frequent (80-99%)HP:0003740
Grip myotonia
Frequent (30-79%)HP:0012899
Hypertrophic muscles
Frequent (30-79%)HP:0003712
Muscle pain
Frequent (30-79%)HP:0003326
Percussion myotonia
Frequent (30-79%)HP:0010548
Clumsiness
Occasional (5-29%)HP:0002312
EMG: myopathic changes
Occasional (5-29%)HP:0003458
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Lid lag on downgaze
Occasional (5-29%)HP:0025605
Muscle spasm
Occasional (5-29%)HP:0003394
Muscle weakness, progressive, distal
Occasional (5-29%)HP:0009063
Abnormal heart rate
Very rare (1-4%)HP:0011675
Abnormality of cardiac conduction system
Very rare (1-4%)HP:0031546
Deglutition disorder
Very rare (1-4%)HP:0002015
EMG: myotonic runs
HP:0003730
Muscle weakness
Excluded (<1%)HP:0001324

Related Conditions

Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Myotonia congenita(parent)

Quick Facts

SNOMED CT
57938005
UMLS CUI
C2936781
Fully Specified Name
Congenital myotonia, autosomal dominant form (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.