paramyotonia congenita of Von Eulenburg

Term ID

DOID:0111538

Synonyms

• Eulenburg disease
• myotonia congenita intermittens
• paralysis periodica paramyotonica
• paramyotonia congenita
• PMC
• Von Eulenburg paramyotonia congenita

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. (2)

References

• GARD:7325
• ICD10CM:G71.19
• MESH:D020967
• NCI:C122790
• OMIM:168300
• ORDO:684
• SNOMEDCT_US_2023_03_01:41574007
• UMLS_CUI:C0221055

Ontology

Human Disease   ( DOID:0111538 )