myotonia congenita
Information
- Disease name
- myotonia congenita
- Disease ID
- DOID:2106
- Description
- "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres." [url:http\://rarediseases.org/rare-diseases/myotonia-congenita/, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614, url:https\://medlineplus.gov/genetics/condition/myotonia-congenita/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00244413 | Completed | Characteristics of Nondystrophic Myotonias | February 2006 | September 2012 | |
| NCT01939561 | Completed | Phase 3 | Lamotrigine as Treatment of Myotonia | November 2013 | November 2015 |
| NCT02251457 | Completed | Phase 1 | Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 | August 2014 | December 18, 2017 |
| NCT02336477 | Completed | Phase 3 | Mexiletine and Non Dystrophic Myotonias | June 2011 | January 2014 |
| NCT04799366 | Completed | Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia | February 1, 2021 | December 1, 2021 |
- Disase is a (Disease Ontology)
- DOID:66
- Cross Reference ID (Disease Ontology)
- GARD:12301
- Cross Reference ID (Disease Ontology)
- ICD9CM:359.22
- Cross Reference ID (Disease Ontology)
- MESH:D009224
- Cross Reference ID (Disease Ontology)
- NCI:C84912
- Cross Reference ID (Disease Ontology)
- ORDO:614
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0027127
- Exact Synonym (Disease Ontology)
- Batten Turner congenital myopathy
- Exact Synonym (Disease Ontology)
- Thomsen and Becker disease
- MeSH unique ID (MeSH (Medical Subject Headings))
- D009224