Nondystrophic myotonia

Summary

Nondystrophic myotonia (MONDO:0054869) is a disease and 2 clinical trials. A subtype of myotonic syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nondystrophic myotonia
Mondo ID	MONDO:0054869
MeSH	C536245
UMLS	C2931139
MedGen	419721
GARD	0009852
Is cancer (heuristic)	no

Also known as: NDM

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › myotonic syndrome › nondystrophic myotonia

Related subtypes (4): paramyotonia congenita of Von Eulenburg, myotonic dystrophy, potassium-aggravated myotonia, laryngospasm, severe neonatal episodic

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00244413	Not specified	COMPLETED	Characteristics of Nondystrophic Myotonias
NCT04808388	Not specified	UNKNOWN	Using MRI in Patients With Non-dystrophic Myotonia to Access Muscle Contractility