familial periodic paralysis

Term ID

DOID:1029

Synonyms

Definition

A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. (2)

References

• GARD:6422
• ICD10CM:G72.3
• MESH:D010245
• NCI:C84709
• SNOMEDCT_US_2023_03_01:193241004
• UMLS_CUI:C0030443

Ontology

Human Disease   ( DOID:1029 )