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Thyrotoxic periodic paralysis, susceptibility to, 1(TTPP1)

MedGen UID:
413199
Concept ID:
C2749982
Finding
Synonym: TTPP1
 
Gene (location): CACNA1S (1q32.1)
 
Monarch Initiative: MONDO:0008570
OMIM®: 188580

Definition

Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; 170400), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by Kung, 2006). Genetic Heterogeneity of Thyrotoxic Periodic Paralysis See also TTPP2 (613239), conferred by variation in the KCNJ18 gene (613236) on chromosome 17p11, and TTPP3 (614834), mapped to chromosome 17q24. [from OMIM]

Clinical features

From HPO
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
Periodic paralysis
MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
Episodes of muscle weakness.
Rhabdomyolysis
MedGen UID:
19775
Concept ID:
C0035410
Pathologic Function
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Disease or Syndrome
An enlargement of the thyroid gland.
Hyperthyroidism
MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).

Recent clinical studies

Etiology

Hoi-Yee Li G, Cheung CL, Zhao SX, Song HD, Wai-Chee Kung A
Eur J Endocrinol 2020 Dec;183(6):607-617. doi: 10.1530/EJE-20-0523. PMID: 33105104
Zhao SX, Liu W, Liang J, Gao GQ, Zhang XM, Yao Y, Wang HN, Yuan FF, Xue LQ, Ma YR, Zhang LL, Ye XP, Zhang QY, Sun F, Zhang RJ, Yang SY, Zhan M, Du WH, Liu BL, Chen X, Song ZY, Li XS, Li P, Ru Y, Zuo CL, Li SX, Han B, Zhu H, Qiao J, Xuan M, Su B, Sun F, Ma JH, Chen JL, Tian HM, Chen SJ, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease
JAMA Netw Open 2019 May 3;2(5):e193348. doi: 10.1001/jamanetworkopen.2019.3348. PMID: 31050781Free PMC Article
Fialho D, Griggs RC, Matthews E
Handb Clin Neurol 2018;148:505-520. doi: 10.1016/B978-0-444-64076-5.00032-6. PMID: 29478596
Song IW, Sung CC, Chen CH, Cheng CJ, Yang SS, Chou YC, Yang JH, Chen YT, Wu JY, Lin SH
Neurology 2016 Mar 29;86(13):1190-8. Epub 2016 Mar 2 doi: 10.1212/WNL.0000000000002524. PMID: 26935888
Cheung CL, Lau KS, Ho AY, Lee KK, Tiu SC, Lau EY, Leung J, Tsang MW, Chan KW, Yeung CY, Woo YC, Cheung EY, Hung VH, Pang HK, Hung CS, Sham PC, Kung AW
Nat Genet 2012 Sep;44(9):1026-9. Epub 2012 Aug 5 doi: 10.1038/ng.2367. PMID: 22863731

Diagnosis

Rasheed E, Seheult J, Gibney J, Boran G
Ann Clin Biochem 2018 Nov;55(6):713-716. Epub 2018 Jul 20 doi: 10.1177/0004563218785395. PMID: 29886759
Song IW, Sung CC, Chen CH, Cheng CJ, Yang SS, Chou YC, Yang JH, Chen YT, Wu JY, Lin SH
Neurology 2016 Mar 29;86(13):1190-8. Epub 2016 Mar 2 doi: 10.1212/WNL.0000000000002524. PMID: 26935888
Arimura K, Arimura Y, Ng AR, Sakoda S, Higuchi I
Muscle Nerve 2007 Dec;36(6):784-8. doi: 10.1002/mus.20865. PMID: 17722048
Lin SH, Lin YF, Halperin ML
QJM 2001 Mar;94(3):133-9. doi: 10.1093/qjmed/94.3.133. PMID: 11259688
Nellen H, Mercado M, Mendoza V, Villanueva S, Pérez M, Hernández A, Arellano J
Arch Med Res 1999 Jan-Feb;30(1):74-6. doi: 10.1016/s0188-0128(98)00014-1. PMID: 10071430

Therapy

Park S, Kim TY, Sim S, Oh HS, Song E, Kim M, Kwon H, Choi YM, Jeon MJ, Kim WG, Shong YK, Kim WB
Exp Clin Endocrinol Diabetes 2017 Feb;125(2):75-78. Epub 2016 Dec 22 doi: 10.1055/s-0042-119527. PMID: 28008586
Arimura K, Arimura Y, Ng AR, Sakoda S, Higuchi I
Muscle Nerve 2007 Dec;36(6):784-8. doi: 10.1002/mus.20865. PMID: 17722048

Prognosis

Noso S, Babaya N, Hiromine Y, Ito H, Taketomo Y, Yoshida S, Niwano F, Monobe K, Minohara T, Okada T, Tsugawa M, Kawabata Y, Ikegami H
J Clin Endocrinol Metab 2019 Dec 1;104(12):6338-6344. doi: 10.1210/jc.2019-00672. PMID: 31361309
Zhao SX, Liu W, Liang J, Gao GQ, Zhang XM, Yao Y, Wang HN, Yuan FF, Xue LQ, Ma YR, Zhang LL, Ye XP, Zhang QY, Sun F, Zhang RJ, Yang SY, Zhan M, Du WH, Liu BL, Chen X, Song ZY, Li XS, Li P, Ru Y, Zuo CL, Li SX, Han B, Zhu H, Qiao J, Xuan M, Su B, Sun F, Ma JH, Chen JL, Tian HM, Chen SJ, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease
JAMA Netw Open 2019 May 3;2(5):e193348. doi: 10.1001/jamanetworkopen.2019.3348. PMID: 31050781Free PMC Article
Fan C, Kuhn M, Mbiol AP, Groome J, Winston V, Biskup S, Lehmann-Horn F, Jurkat-Rott K
Acta Myol 2018 Sep;37(3):193-203. Epub 2018 Sep 1 PMID: 30838349Free PMC Article
Cheung CL, Lau KS, Ho AY, Lee KK, Tiu SC, Lau EY, Leung J, Tsang MW, Chan KW, Yeung CY, Woo YC, Cheung EY, Hung VH, Pang HK, Hung CS, Sham PC, Kung AW
Nat Genet 2012 Sep;44(9):1026-9. Epub 2012 Aug 5 doi: 10.1038/ng.2367. PMID: 22863731

Clinical prediction guides

Hoi-Yee Li G, Cheung CL, Zhao SX, Song HD, Wai-Chee Kung A
Eur J Endocrinol 2020 Dec;183(6):607-617. doi: 10.1530/EJE-20-0523. PMID: 33105104
Zhao SX, Liu W, Liang J, Gao GQ, Zhang XM, Yao Y, Wang HN, Yuan FF, Xue LQ, Ma YR, Zhang LL, Ye XP, Zhang QY, Sun F, Zhang RJ, Yang SY, Zhan M, Du WH, Liu BL, Chen X, Song ZY, Li XS, Li P, Ru Y, Zuo CL, Li SX, Han B, Zhu H, Qiao J, Xuan M, Su B, Sun F, Ma JH, Chen JL, Tian HM, Chen SJ, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease
JAMA Netw Open 2019 May 3;2(5):e193348. doi: 10.1001/jamanetworkopen.2019.3348. PMID: 31050781Free PMC Article
Fan C, Kuhn M, Mbiol AP, Groome J, Winston V, Biskup S, Lehmann-Horn F, Jurkat-Rott K
Acta Myol 2018 Sep;37(3):193-203. Epub 2018 Sep 1 PMID: 30838349Free PMC Article
Cheung CL, Lau KS, Ho AY, Lee KK, Tiu SC, Lau EY, Leung J, Tsang MW, Chan KW, Yeung CY, Woo YC, Cheung EY, Hung VH, Pang HK, Hung CS, Sham PC, Kung AW
Nat Genet 2012 Sep;44(9):1026-9. Epub 2012 Aug 5 doi: 10.1038/ng.2367. PMID: 22863731
Arimura K, Arimura Y, Ng AR, Sakoda S, Higuchi I
Muscle Nerve 2007 Dec;36(6):784-8. doi: 10.1002/mus.20865. PMID: 17722048

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