01
Diseases
Paramyotonia Congenita Of Von Eulenburg
paramyotonia congenita of von eulenburg
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Paramyotonia Congenita Of Von Eulenburg
- Standard Disease Name
- paramyotonia congenita of von eulenburg
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 168300
- UMLS ID
- C0221055|C1868619
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by muscle stiffness, which is increased by exposure to cold or activity, and usually eases when the patient warms up through physical activity.