paramyotonia congenita of Von Eulenburg (DOID:0111538)
Alliance: disease page
Synonyms: Eulenburg disease; myotonia congenita intermittens; paralysis periodica paramyotonica; paramyotonia congenita; PMC; Von Eulenburg paramyotonia congenita
Alt IDs: OMIM:168300, ICD10CM:G71.19, MESH:D020967, NCI:C122790, ORDO:684, UMLS_CUI:C0221055
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.