U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Familial normokalemic periodic paralysis

MedGen UID:
78678
Concept ID:
C0268445
Disease or Syndrome
Synonym: Normokalemic Periodic Paralysis
SNOMED CT: Familial normokalemic periodic paralysis (40381009); Sodium-responsive periodic paralysis (40381009); Normokalemic periodic paralysis (40381009); Periodic paralysis III (40381009)
 
Monarch Initiative: MONDO:0008225
OMIM®: 170600
Orphanet: ORPHA680

Definition

An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis. Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial normokalemic periodic paralysis

Professional guidelines

PubMed

Matthews E, Holmes S, Fialho D
Pract Neurol 2021 Jun;21(3):196-204. Epub 2021 Feb 9 doi: 10.1136/practneurol-2020-002576. PMID: 33563766
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...