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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://ghr.nlm.nih.gov/condition/paramyotonia-congenita, https://www.ncbi.nlm.nih.gov/pubmed/1316765
Xrefs

GARD:7325

ICD10CM:G71.19

MESH:D020967

MIM:168300

NCI:C122790

ORDO:684

SNOMEDCT_US_2023_03_01:41574007

UMLS_CUI:C0221055

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

is_a neuromuscular disease

is_a autosomal dominant disease

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