Human Phenotype Ontology

Last uploaded: February 24, 2022
Preferred Name

Myotonia

Synonyms

Delayed relaxation of muscle fibres after contraction

Delayed relaxation of muscle fibers after contraction

Definitions

Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.

ID

http://purl.obolibrary.org/obo/HP_0002486

comment

Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers.

database_cross_reference

SNOMEDCT_US:3434004

MSH:D009222

UMLS:C0027125

definition

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.

has_alternative_id

HP:0003632

HP:0003754

HP:0003792

has_exact_synonym

Delayed relaxation of muscle fibres after contraction

Delayed relaxation of muscle fibers after contraction

has_obo_namespace

human_phenotype

id

HP:0002486

label

Myotonia

notation

HP:0002486

prefLabel

Myotonia

treeView

http://purl.obolibrary.org/obo/HP_0011804

subClassOf

http://purl.obolibrary.org/obo/HP_0011804

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Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD11CN/MB47.9 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/MESH/D009222 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU002237 Online Mendelian Inheritance in Man LOOM