|
Term ID: | 995 |
Name: | familial periodic paralysis |
Definition: | A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It 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. |
Alternative IDs: | |
ParentIDs: | |
TreeNumbers: | |
Synonyms: | familial periodic paralyses; familial periodic paralysis; genetic periodic paralysis; hereditary periodic paralysis (disease); Normokalemic periodic paralyses; Normokalemic periodic paralysis; paralyses, Normokalemic periodic; paralysis, familial periodic; paralysis, Normokalemic periodic; periodic |
Slim Mappings: | |
Reference: |
MedGen:
MeSH:
OMIM: MSeqDR : Genes: | Phenotypes | | Disease Causing ClinVar Variants | | MSeqDR Portal | |
|