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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]

Professional guidelines

PubMed

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
Johnsen
Acta Neurol Scand 1977 Dec;56(6):613-9. doi: 10.1111/j.1600-0404.1977.tb01467.x. PMID: 605783
Sestoft L
Dan Med Bull 1967 Jun;14(7):157-60. PMID: 6047305

Recent clinical studies

Etiology

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
Hisama FM
Arch Neurol 2005 Jan;62(1):135-8. doi: 10.1001/archneur.62.1.135. PMID: 15642860
Lin SH, Lin YF, Halperin ML
QJM 2001 Mar;94(3):133-9. doi: 10.1093/qjmed/94.3.133. PMID: 11259688
Milite CP, Golob DS
Conn Med 2000 Apr;64(4):195-7. PMID: 10812764
Johnsen T
Acta Neurol Scand 1976 Aug;54(2):167-72. doi: 10.1111/j.1600-0404.1976.tb04790.x. PMID: 952203

Diagnosis

Cannon SC
Handb Clin Neurol 2024;203:39-58. doi: 10.1016/B978-0-323-90820-7.00002-1. PMID: 39174253Free PMC Article
Jurkat-Rott K, Lehmann-Horn F
Neurology 2004 Mar 23;62(6):1012-5. doi: 10.1212/01.wnl.0000119392.29624.88. PMID: 15037716
Lin SH, Lin YF, Halperin ML
QJM 2001 Mar;94(3):133-9. doi: 10.1093/qjmed/94.3.133. PMID: 11259688
Melnick B, Chang JL, Larson CE, Bedger RC
Anesthesiology 1983 Mar;58(3):263-5. doi: 10.1097/00000542-198303000-00011. PMID: 6829961
Johnsen T
Dan Med Bull 1981 Mar;28(1):1-27. PMID: 6263554

Therapy

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
Wang P, Clausen T, Orskov H
Monogr Hum Genet 1978;10:62-5. doi: 10.1159/000401567. PMID: 723906
Harris DM
Lancet 1976 Feb 21;1(7956):427. doi: 10.1016/s0140-6736(76)90262-2. PMID: 55692
Gordon N
Dev Med Child Neurol 1973 Jun;15(3):363-4. doi: 10.1111/j.1469-8749.1973.tb04895.x. PMID: 4718690
Sestoft L
Dan Med Bull 1967 Jun;14(7):157-60. PMID: 6047305

Prognosis

Djurhuus MS, Klitgaard NA, Jensen BM, Andersen PE, Schrøder HD
Acta Paediatr 1998 Apr;87(4):475-7. doi: 10.1080/08035259850157156. PMID: 9628312
Bunting HE, Allen RW
Paediatr Anaesth 1997;7(2):171-5. doi: 10.1046/j.1460-9592.1997.d01-48.x. PMID: 9188121
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
Adamiec L, Blachowska B, Drac H
Anaesth Resusc Intensive Ther 1974 Oct-Dec;2(4):379-84. PMID: 4460757
GREENBERG IM
Am J Psychiatry 1961 Sep;118:260-3. doi: 10.1176/ajp.118.3.260. PMID: 13708242

Clinical prediction guides

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
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
Martin AR, Levinson SR
Muscle Nerve 1985 Jun;8(5):359-62. doi: 10.1002/mus.880080503. PMID: 16758580
Sharma SD
J Assoc Physicians India 1971 Aug;19(8):603. PMID: 5118242
ZIEGLER DK
Arch Intern Med (Chic) 1949 Sep;84(3):419-30 !V17(49) R-00938. doi: 10.1001/archinte.1949.00230030061005. PMID: 18139435

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