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Periodic paralysis

MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
Synonym: Episodic paralysis
SNOMED CT: Periodic paralysis (198030008)
 
HPO: HP:0003768
Monarch Initiative: MONDO:0016122
Orphanet: ORPHA206976

Definition

Episodes of muscle weakness. [from HPO]

Conditions with this feature

Tyrosinemia type I
MedGen UID:
75688
Concept ID:
C0268490
Disease or Syndrome
Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.
Andersen Tawil syndrome
MedGen UID:
327586
Concept ID:
C1563715
Disease or Syndrome
Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.
Familial pseudohyperkalemia
MedGen UID:
324588
Concept ID:
C1836705
Disease or Syndrome
'Familial pseudohyperkalemia' (PSHK) is a term that was coined to describe conditions in which a patient presents with pseudohyperkalemia as a result of a temperature-based abnormality in the transport of potassium (K) and sodium (Na) across the red cell membrane, in association with essentially normal hematology. PSHK can be considered to be the clinically benign, nonhemolytic cousin of hereditary stomatocytic leaky-cell, congenital hemolytic anemias (see 194380) (summary by Gore et al., 2002). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.
Renal tubular acidosis 3
MedGen UID:
336601
Concept ID:
C1849435
Disease or Syndrome
Thyrotoxic periodic paralysis, susceptibility to, 1
MedGen UID:
413199
Concept ID:
C2749982
Finding
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.
Hypokalemic periodic paralysis, type 2
MedGen UID:
413748
Concept ID:
C2750061
Disease or Syndrome
Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP.
Thyrotoxic periodic paralysis, susceptibility to, 2
MedGen UID:
413851
Concept ID:
C2750473
Finding
Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.
Congenital myasthenic syndrome 16
MedGen UID:
481742
Concept ID:
C3280112
Disease or Syndrome
Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Hypokalemic periodic paralysis, type 1
MedGen UID:
811387
Concept ID:
C3714580
Disease or Syndrome
Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP.

Professional guidelines

PubMed

Wiersinga WM, Poppe KG, Effraimidis G
Lancet Diabetes Endocrinol 2023 Apr;11(4):282-298. Epub 2023 Feb 24 doi: 10.1016/S2213-8587(23)00005-0. PMID: 36848916
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
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Recent clinical studies

Etiology

Vicino A, Brugnoni R, Maggi L
Expert Rev Mol Diagn 2023 Jul-Dec;23(12):1175-1193. Epub 2023 Dec 15 doi: 10.1080/14737159.2023.2288258. PMID: 38009256
Wiersinga WM, Poppe KG, Effraimidis G
Lancet Diabetes Endocrinol 2023 Apr;11(4):282-298. Epub 2023 Feb 24 doi: 10.1016/S2213-8587(23)00005-0. PMID: 36848916
Vivekanandam V, Munot P, Hanna MG, Matthews E
Neurol Clin 2020 Aug;38(3):481-491. doi: 10.1016/j.ncl.2020.04.003. PMID: 32703462
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
Ahlawat SK, Sachdev A
Postgrad Med J 1999 Apr;75(882):193-7. doi: 10.1136/pgmj.75.882.193. PMID: 10715756Free PMC Article

Diagnosis

Vivekanandam V, Jayaseelan D, Hanna MG
Handb Clin Neurol 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6. PMID: 37562884
Sansone VA
Continuum (Minneap Minn) 2019 Dec;25(6):1696-1711. doi: 10.1212/CON.0000000000000802. PMID: 31794467
Phillips L, Trivedi JR
Neurotherapeutics 2018 Oct;15(4):954-965. doi: 10.1007/s13311-018-00678-0. PMID: 30341599Free PMC Article
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
Stapleton LJ
Scott Med J 2018 Feb;63(1):28-31. Epub 2017 Aug 25 doi: 10.1177/0036933017727420. PMID: 28841083

Therapy

Wiersinga WM, Poppe KG, Effraimidis G
Lancet Diabetes Endocrinol 2023 Apr;11(4):282-298. Epub 2023 Feb 24 doi: 10.1016/S2213-8587(23)00005-0. PMID: 36848916
Trivedi JR
Continuum (Minneap Minn) 2022 Dec 1;28(6):1778-1799. doi: 10.1212/CON.0000000000001183. PMID: 36537980
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
Stapleton LJ
Scott Med J 2018 Feb;63(1):28-31. Epub 2017 Aug 25 doi: 10.1177/0036933017727420. PMID: 28841083
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Prognosis

Holm-Yildiz S, Krag T, Witting N, Pedersen BS, Dysgaard T, Sloth L, Pedersen J, Kjær R, Kannuberg L, Dahlqvist J, de Stricker Borch J, Solheim T, Fornander F, Eisum AS, Vissing J
J Neurol 2023 Dec;270(12):6057-6063. Epub 2023 Sep 1 doi: 10.1007/s00415-023-11964-z. PMID: 37656291Free PMC Article
Wiersinga WM, Poppe KG, Effraimidis G
Lancet Diabetes Endocrinol 2023 Apr;11(4):282-298. Epub 2023 Feb 24 doi: 10.1016/S2213-8587(23)00005-0. PMID: 36848916
Cui H, Zhang X
Endokrynol Pol 2022;73(1):157-162. Epub 2022 Feb 4 doi: 10.5603/EP.a2022.0004. PMID: 35119093
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Lin SH, Huang CL
J Am Soc Nephrol 2012 Jun;23(6):985-8. Epub 2012 Mar 29 doi: 10.1681/ASN.2012010046. PMID: 22460532Free PMC Article

Clinical prediction guides

Holm-Yildiz S, Krag T, Witting N, Pedersen BS, Dysgaard T, Sloth L, Pedersen J, Kjær R, Kannuberg L, Dahlqvist J, de Stricker Borch J, Solheim T, Fornander F, Eisum AS, Vissing J
J Neurol 2023 Dec;270(12):6057-6063. Epub 2023 Sep 1 doi: 10.1007/s00415-023-11964-z. PMID: 37656291Free PMC Article
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT
Skelet Muscle 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. PMID: 33190635Free PMC Article
Vivekanandam V, Männikkö R, Matthews E, Hanna MG
Expert Rev Mol Diagn 2020 Jul;20(7):725-736. Epub 2020 Jul 12 doi: 10.1080/14737159.2020.1782195. PMID: 32657178
Lehmann-Horn F, Jurkat-Rott K, Rüdel R
Curr Neurol Neurosci Rep 2002 Jan;2(1):61-9. doi: 10.1007/s11910-002-0055-9. PMID: 11898585

Recent systematic reviews

Desaphy JF, Altamura C, Vicart S, Fontaine B
J Neuromuscul Dis 2021;8(3):357-381. doi: 10.3233/JND-200582. PMID: 33325393Free PMC Article
Ignacio KHD, Bagnas MAC, Espiritu AI, Reyes JPBT
J Clin Neurosci 2019 Dec;70:254-257. Epub 2019 Aug 19 doi: 10.1016/j.jocn.2019.08.063. PMID: 31439490
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

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