Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Familial periodic paralysis

MedGen UID:: 18291
•Concept ID:: C0030443
•: Disease or Syndrome

Synonyms:	Familial Periodic Paralyses; Familial Periodic Paralysis; Paralyses, Familial Periodic; Paralysis, Familial Periodic; Periodic Paralyses, Familial; Periodic Paralysis, Familial
SNOMED CT:	Familial periodic paralysis (267607008); Myoplegic dystrophy (267607008); Familial recurrent paralysis (267607008); Familial myoplegia (267607008); Cavarre disease (267607008); Periodic myotonia (267607008)

Monarch Initiative:	MONDO:0000995
Orphanet:	ORPHA371433

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. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial periodic paralysis

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Inborn metal metabolism disorder
      - Familial periodic paralysis
        Andersen Tawil syndrome
        Hyperkalemic periodic paralysis
        Hypokalemic periodic paralysis
        Hypokalemic periodic paralysis, type 1
        Hypokalemic periodic paralysis, type 2
        Periodic paralysis with later-onset distal motor neuropathy
        Periodic paralysis with transient compartment-like syndrome

Professional guidelines

PubMed

Genotype and phenotype analysis of patients with sporadic periodic paralysis.

Sung CC, Cheng CJ, Lo YF, Lin MS, Yang SS, Hsu YC, Lin SH
Am J Med Sci 2012 Apr;343(4):281-5. doi: 10.1097/MAJ.0b013e31822b430c. PMID: 21841462

Treatment of familial periodic hypokalemia with propranolol (Inderal).

Johnsen
Acta Neurol Scand 1977 Dec;56(6):613-9. doi: 10.1111/j.1600-0404.1977.tb01467.x. PMID: 605783

Direct transition from hypo- to hyperkalaemic paralysis during potassium treatment of familial periodic paralysis. A case.

Sestoft L
Dan Med Bull 1967 Jun;14(7):157-60. PMID: 6047305

See all (3)

Recent clinical studies

Etiology

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.

Hiraide T, Fukumura S, Yamamoto A, Nakashima M, Saitsu H
Brain Dev 2021 Mar;43(3):470-474. Epub 2020 Nov 14 doi: 10.1016/j.braindev.2020.10.010. PMID: 33199157

The Mary Walker effect: Mary Broadfoot Walker.

McCarter SJ, Burkholder DB, Klaas JP, Martinez-Thompson JM, Boes CJ
J R Coll Physicians Edinb 2019 Sep;49(3):255-259. doi: 10.4997/JRCPE.2019.317. PMID: 31497797

Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.

Hisama FM
Arch Neurol 2005 Jan;62(1):135-8. doi: 10.1001/archneur.62.1.135. PMID: 15642860

Hypokalaemia and paralysis.

Lin SH, Lin YF, Halperin ML
QJM 2001 Mar;94(3):133-9. doi: 10.1093/qjmed/94.3.133. PMID: 11259688

Thyrotoxic periodic paralysis in the United States. Report of 7 cases and review of the literature.

Ober KP
Medicine (Baltimore) 1992 May;71(3):109-20. doi: 10.1097/00005792-199205000-00001. PMID: 1635436

See all (9)

Diagnosis

Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.

Rai MK, Pai R, Prabhu MA, Pasha SW, Kedambadi RC, Kamath P, Augustine AJ, Bhavani GS, Girisha KM
Pacing Clin Electrophysiol 2019 Feb;42(2):201-207. Epub 2018 Dec 19 doi: 10.1111/pace.13569. PMID: 30516834

Genotype and phenotype analysis of patients with sporadic periodic paralysis.

Sung CC, Cheng CJ, Lo YF, Lin MS, Yang SS, Hsu YC, Lin SH
Am J Med Sci 2012 Apr;343(4):281-5. doi: 10.1097/MAJ.0b013e31822b430c. PMID: 21841462

Hypokalaemia and paralysis.

Lin SH, Lin YF, Halperin ML
QJM 2001 Mar;94(3):133-9. doi: 10.1093/qjmed/94.3.133. PMID: 11259688

Thyrotoxic periodic paralysis in the United States. Report of 7 cases and review of the literature.

Ober KP
Medicine (Baltimore) 1992 May;71(3):109-20. doi: 10.1097/00005792-199205000-00001. PMID: 1635436

Hypokalemic familial periodic paralysis.

Melnick B, Chang JL, Larson CE, Bedger RC
Anesthesiology 1983 Mar;58(3):263-5. doi: 10.1097/00000542-198303000-00011. PMID: 6829961

See all (26)

Therapy

The Mary Walker effect: Mary Broadfoot Walker.

McCarter SJ, Burkholder DB, Klaas JP, Martinez-Thompson JM, Boes CJ
J R Coll Physicians Edinb 2019 Sep;49(3):255-259. doi: 10.4997/JRCPE.2019.317. PMID: 31497797

Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.

Elementary, my dear Dr. Allen: the case of barium toxicity and Pa Ping.

Bowen LN, Subramony SH, Cheng J, Wu SS, Okun MS
Neurology 2010 May 11;74(19):1546-9. doi: 10.1212/WNL.0b013e3181e222ee. PMID: 20458073

Treatment of attacks in hyperkalaemic familial periodic paralysis by inhalation of salbutamol.

Wang P, Clausen T
Lancet 1976 Jan 31;1(7953):221-3. doi: 10.1016/s0140-6736(76)91340-4. PMID: 55532

Familial periodic paralysis.

Gordon N
Dev Med Child Neurol 1973 Jun;15(3):363-4. doi: 10.1111/j.1469-8749.1973.tb04895.x. PMID: 4718690

See all (21)

Prognosis

Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline.

Djurhuus MS, Klitgaard NA, Jensen BM, Andersen PE, Schrøder HD
Acta Paediatr 1998 Apr;87(4):475-7. doi: 10.1080/08035259850157156. PMID: 9628312

Prolonged muscle weakness following emergency tonsillectomy in a patient with familial periodic paralysis and infectious mononucleosis.

Bunting HE, Allen RW
Paediatr Anaesth 1997;7(2):171-5. doi: 10.1046/j.1460-9592.1997.d01-48.x. PMID: 9188121

Atracurium use in a patient with familial periodic paralysis.

Laurito CE, Becker GL, Miller PE
J Clin Anesth 1991 May-Jun;3(3):225-8. doi: 10.1016/0952-8180(91)90165-j. PMID: 1878236

Assessment of respiratory system changes in a patient with familial periodic paralysis of atypical course.

Adamiec L, Blachowska B, Drac H
Anaesth Resusc Intensive Ther 1974 Oct-Dec;2(4):379-84. PMID: 4460757

Acute intercurrent psychosis during the course of familial periodic paralysis.

GREENBERG IM
Am J Psychiatry 1961 Sep;118:260-3. doi: 10.1176/ajp.118.3.260. PMID: 13708242

See all (5)

Clinical prediction guides

Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.

Elementary, my dear Dr. Allen: the case of barium toxicity and Pa Ping.

Bowen LN, Subramony SH, Cheng J, Wu SS, Okun MS
Neurology 2010 May 11;74(19):1546-9. doi: 10.1212/WNL.0b013e3181e222ee. PMID: 20458073

Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.

Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M
Circulation 2002 Jun 4;105(22):2592-4. doi: 10.1161/01.cir.0000019906.35135.a3. PMID: 12045162

Contribution of the Na(+)-K+ pump to membrane potential in familial periodic paralysis.

Martin AR, Levinson SR
Muscle Nerve 1985 Jun;8(5):359-62. doi: 10.1002/mus.880080503. PMID: 16758580

Familial periodic paralysis; report on two families, with observations on the pathogenesis of the syndrome.

ZIEGLER DK
Arch Intern Med (Chic) 1949 Sep;84(3):419-30 !V17(49) R-00938. doi: 10.1001/archinte.1949.00230030061005. PMID: 18139435

See all (6)

MedGen

National Center for Biotechnology Information

Send to:

Familial periodic paralysis

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

Recent activity