| Metadata | |
|---|---|
| ID | DOID:0111538 |
| Name | paramyotonia congenita of Von Eulenburg |
| Definition | A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. https://www.ncbi.nlm.nih.gov/pubmed/1316765, https://ghr.nlm.nih.gov/condition/paramyotonia-congenita |
| Xrefs |
SNOMEDCT_US_2023_03_01:41574007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Eulenburg disease [EXACT] myotonia congenita intermittens [EXACT] paralysis periodica paramyotonica [EXACT] paramyotonia congenita [EXACT] PMC [EXACT] Von Eulenburg paramyotonia congenita [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has symptom some muscle weakness |