2,751 results match your criteria Periodic Paralyses


Managing pregnancy and anaesthetics in patients with skeletal muscle channelopathies.

Neuromuscul Disord 2020 May 28. Epub 2020 May 28.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

The skeletal muscle channelopathies are a group of rare diseases and include non-dystrophic myotonia and periodic paralysis. Given their rarity, little has been published on the management of anaesthesia and pregnancy in this cohort despite being important aspects of care. We have conducted a large study of over 70 patients who underwent anaesthesia and 87 pregnancies to investigate the problems encountered following anaesthesia or during pregnancy. Read More

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http://dx.doi.org/10.1016/j.nmd.2020.05.007DOI Listing

Estrogen preconditioning: A promising strategy to reduce inflammation in the ischemic brain.

Cond Med 2019 30;2(3):106-113. Epub 2019 Jun 30.

Peritz Scheinberg Cerebral Vascular Disease Research Laboratories, Department of Neurology, Leonard M. Miller School of Medicine, University of Miami, Miami, Florida 33136, U.S.A.

During the premenopausal phase of a woman's life, estrogen naturally protects against ischemic brain damage and its debilitating consequence of cognitive decline. However, the decline in estrogen at menopause exponentially increases a women's risk for cerebral ischemia and its severity. Supplementation of estrogen during menopause is the most logical solution to abate this increased risk for cerebral ischemia; however, continuous therapy has proven to be contraindicative. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331970PMC

Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Jul 3:1-4. Epub 2020 Jul 3.

Department of Neurology, University College London Hospitals NHS Foundation Trust, London, UK.

Amyotrophic lateral sclerosis (ALS) is an invariably fatal adult-onset neurodegenerative disorder; approximately 10% of ALS is monogenic but all ALS exhibits significant heritability. The skeletal muscle sodium channelopathies are a group of inherited, non-dystrophic ion channel disorders caused by heterozygous point mutations in the gene, leading to clinical manifestations of congenital myotonia, paramyotonia, and periodic paralysis syndromes. We provide clinical and genetic evidence of concurrence of these two rare disorders which implies a possible shared underlying pathophysiology in two patients. Read More

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http://dx.doi.org/10.1080/21678421.2020.1786128DOI Listing

First Onset Hypokalemic Periodic Paralysis Following Surgery for Myxopapillary Ependymoma, Case Report.

World Neurosurg 2020 Jun 22. Epub 2020 Jun 22.

George Emil Palade University of Medicine, Pharmacy, Science and Technology, Tîrgu MureȘ, Romania; Department of Neurology, Tîrgu MureȘ County Clinical Emergency Hospital, Tîrgu MureȘ, Romania.

Background: Hypokalemic periodic paralysis is a rare skeletal muscle channelopathy characterized by intermittent episodes of acute flaccid paralysis with associated hypokalaemia. We present here the case of a first-onset hypokalemic periodic paralysis triggered by a lumbar spinal surgery for tumor resection.

Case Description: A 37-years old male, without any known prior medical conditions who presented with a first-onset attack of hypokalemic paralysis 1. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.06.109DOI Listing

Permanent muscle weakness in hypokalemic periodic paralysis.

Neurology 2020 Jun 24. Epub 2020 Jun 24.

From the Copenhagen Neuromuscular Center, Department of Neurology (S.H.-Y., N.W., J.D., J.d.S.B., T.S., F.F., A.-S.E., J.V.), and Department of Clinical Genetics (M.D.), Rigshospitalet, University of Copenhagen; and Neurology Practice (T.S.), Herlev, Denmark.

Objective: To map the phenotypic spectrum in 55 individuals with mutations in known to cause hypokalemic periodic paralysis (HypoPP) using medical history, muscle strength testing, and muscle MRI.

Methods: Adults with a mutation in known to cause HypoPP were included. Medical history was obtained. Read More

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http://dx.doi.org/10.1212/WNL.0000000000009828DOI Listing

"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.

Adv Genet 2020 26;105:137-174. Epub 2020 May 26.

Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. Electronic address:

Potassium channels are a heterogeneous group of membrane-bound proteins, whose functions support a diverse range of biological processes. Genetic disorders arising from mutations in potassium channels are classically recognized by symptoms arising from acute channel dysfunction, such as periodic paralysis, ataxia, seizures, or cardiac conduction abnormalities, often in a patient with otherwise normal examination findings. In this chapter, we review a distinct subgroup of rare potassium channelopathies whose presentations are instead suggestive of a developmental disorder, with features including intellectual disability, craniofacial dysmorphism or other physical anomalies. Read More

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http://dx.doi.org/10.1016/bs.adgen.2020.03.002DOI Listing

[Clinical and genetic analysis of a patient with Gitelman syndrome misdiagnosed as hypokalemic periodic paralysis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jun;37(6):653-656

Institute of Pediatric Research, Qilu Children's Hospital, Shandong University, Jinan, Shandong 250022, China.

Objective: To explore the genetic basis for a child suspected for hypokalemic periodic paralysis.

Methods: Clinical data of the patient was collected, and venous blood samples were taken from the patient and his parents for the extraction of genomic DNA. Next generation sequencing (NGS) with target capture was carried out to detect potential variants. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.06.014DOI Listing

A role for external Ca2+ in maintaining muscle contractility in periodic paralysis.

Authors:
Stephen C Cannon

J Gen Physiol 2020 Jul;152(7)

Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA.

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http://dx.doi.org/10.1085/jgp.202012615DOI Listing

Thyrotoxic Periodic Paralysis-A Misleading Challenge in the Emergency Department.

Diagnostics (Basel) 2020 May 18;10(5). Epub 2020 May 18.

Endocrinology Department, "Grigore T. Popa" University of Medicine and Pharmacy Iasi, 700111 Iasi, Romania.

Despite its' life-threatening potential due to cardiac severe dysrhythmia in the context of severe hypokalemia, thyrotoxic periodic paralysis (TPP) often goes unrecognized. Although classically confined to young Asian men, it can occur irrespective of age, sex, and race. We report a short series of three cases of TPP as first presentation of Graves' disease in a young Caucasian male and in two Caucasian elderly and middle-aged women, respectively. Read More

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http://dx.doi.org/10.3390/diagnostics10050316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277936PMC

Thyrotoxic Periodic Paralysis With Features of Andersen-Tawil Syndrome: A Case Report and Literature Review.

Cureus 2020 May 17;12(5):e8169. Epub 2020 May 17.

Internal Medicine, California Institute of Behavioral Neurosciences and Psychology, Fairfield, USA.

Thyrotoxic periodic paralysis (TPP) is a rare manifestation of hyperthyroidism. The pathophysiology of hyperthyroidism causing periodic paralysis involves the Na+/K+ ATPase and potassium channels. We present a case of a 30-year-old male who presented to the ED with acute onset of upper and lower limb weakness. Read More

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http://dx.doi.org/10.7759/cureus.8169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7233982PMC

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

PLoS One 2020 14;15(5):e0233017. Epub 2020 May 14.

Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4. The patients with concomitant mutations in both genes manifested different unique symptoms from mutations in these genes separately. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233017PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7224471PMC

Isolated Quadriceps Weakness: A Case of Hypokalemic Periodic Paralysis.

J Emerg Trauma Shock 2020 Jan-Mar;13(1):97-98. Epub 2020 Mar 19.

Department of Medicine, Chandra Laxmi Hospital, Ghaziabad, Uttar Pradesh, India.

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http://dx.doi.org/10.4103/JETS.JETS_119_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204944PMC

An Exploratory Report on Electrographic Changes in the Cerebral Cortex Following Mild Traumatic Brain Injury with Hyperthermia in the Rat.

Ther Hypothermia Temp Manag 2020 May 5. Epub 2020 May 5.

The Miami Project to Cure Paralysis, Miller School of Medicine, University of Miami, Miami, Florida, USA.

Traumatic brain injury (TBI) has the potential to perturb perception by disrupting electrical propagation within and between the thalamus and cerebral cortex. Moderate and severe TBI may result in posttraumatic epilepsy, a condition characterized by convulsive tonic-clonic seizures. Spike/wave discharges (SWDs) of generalized nonconvulsive seizures, also called absence seizures, may also occur as a consequence of brain trauma. Read More

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http://dx.doi.org/10.1089/ther.2020.0002DOI Listing

Chronic bee paralysis as a serious emerging threat to honey bees.

Nat Commun 2020 May 1;11(1):2164. Epub 2020 May 1.

School of Natural and Environmental Sciences, Newcastle University, Newcastle upon Tyne, Tyne and Wear, NE1 7RU, UK.

Chronic bee paralysis is a well-defined viral disease of honey bees with a global distribution that until recently caused rare but severe symptomatology including colony loss. Anecdotal evidence indicates a recent increase in virus incidence in several countries, but no mention of concomitant disease. We use government honey bee health inspection records from England and Wales to test whether chronic bee paralysis is an emerging infectious disease and investigate the spatiotemporal patterns of disease. Read More

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http://dx.doi.org/10.1038/s41467-020-15919-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195492PMC

Thyrotoxic periodic paralysis presenting in an African-American teenage male: case report.

Int J Pediatr Endocrinol 2020 24;2020. Epub 2020 Apr 24.

2Division of Endocrinology, Department of Pediatrics, Stony Brook Children's Hospital, 101 Nicolls Road, HSC-T11, Room 040, Stony Brook, NY 11794 USA.

Background: Thyrotoxic periodic paralysis is a rare complication of hyperthyroidism and is associated with hypokalemia and muscle paralysis. This condition is most commonly seen in Asian men.

Case Presentation: We report on a 14-year-old African American male with Graves' disease and intermittent asthma who presented with bilateral leg weakness. Read More

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http://dx.doi.org/10.1186/s13633-020-00077-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181516PMC

A new clinical entity in T704M mutation in periodic paralysis.

J Clin Neurosci 2020 Apr 23. Epub 2020 Apr 23.

Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey.

Periodic paralyses (PPs) are a group of rare disorders characterized by episodic, sudden-onset, flaccid paralysis of skeletal muscles usually resulting in complete recovery after the attacks. PPs are caused by abnormal, mostly potassium-sensitive excitability of the muscle tissue. Hypokalemic and hyperkalemic periodic paralysis (HypoKPP and HyperKPP) have been described according to their characteristic phenotypes and the serum potassium level during the attacks of weakness. Read More

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http://dx.doi.org/10.1016/j.jocn.2020.04.061DOI Listing

Thyrotoxic Periodic Paralysis with Hypokalemia in an Adult Male from Nepal: A Case Report.

JNMA J Nepal Med Assoc 2019 Nov-Dec;57(220):460-463

Nepalese Army Institute of Health Sciences, Sanobharyang, Kathmandu, Nepal.

Thyrotoxic periodic paralysis is rare complication of hyperthyroidism characterized by the sudden onset of hypokalemia and muscle paralysis. It is typically present in young Asian males. There are very few literatures regarding the occurrence of thyrotoxic hypokalemic periodic paralysis in Nepal. Read More

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"Status myotonicus" in Na1.4-M1592V channelopathy.

Neuromuscul Disord 2020 May 12;30(5):424-426. Epub 2020 Mar 12.

Department of Neurology, University of Florida College of Medicine, 1149 Newell Dr, Gainesville, FL 32610, USA.

Na1.4 channelopathies due to SCN4A mutations can present with episodic attacks of myotonia triggered by fluctuation in the potassium level (potassium-aggravated myotonia). We report a case of potassium-aggravated myotonia due to Na1. Read More

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http://dx.doi.org/10.1016/j.nmd.2020.03.002DOI Listing

BK channel openers NS1619 and NS11021 reverse hydrogen peroxide-induced membrane potential changes in skeletal muscle.

J Recept Signal Transduct Res 2020 Apr 23:1-7. Epub 2020 Apr 23.

Department of Biophysics, Faculty of Medicine, Cukurova University, Adana, Turkey.

Large conductance calcium-activated potassium (BK) channels play a crucial role in the repolarization and after-hyperpolarization phases of the cell membrane. The channel openers are also used in treatment of some diseases, including hypo/hyperkalemic periodic paralysis. However, little is known about the effects of BK channels and the channel activators on membrane potentials in skeletal muscle. Read More

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http://dx.doi.org/10.1080/10799893.2020.1756324DOI Listing

Lower Ca2+ enhances the K+-induced force depression in normal and HyperKPP mouse muscles.

J Gen Physiol 2020 Jul;152(7)

University of Ottawa, Department of Cellular and Molecular Medicine, Ottawa, Ontario, Canada.

Hyperkalemic periodic paralysis (HyperKPP) manifests as stiffness or subclinical myotonic discharges before or during periods of episodic muscle weakness or paralysis. Ingestion of Ca2+ alleviates HyperKPP symptoms, but the mechanism is unknown because lowering extracellular [Ca2+] ([Ca2+]e) has no effect on force development in normal muscles under normal conditions. Lowering [Ca2+]e, however, is known to increase the inactivation of voltage-gated cation channels, especially when the membrane is depolarized. Read More

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http://dx.doi.org/10.1085/jgp.201912511DOI Listing

Changes of Resurgent Na Currents in the Na1.4 Channel Resulting from an Mutation Contributing to Sodium Channel Myotonia.

Int J Mol Sci 2020 Apr 8;21(7). Epub 2020 Apr 8.

Department of Neurology, National Taiwan University Hospital, Taipei 10051, Taiwan.

Myotonia congenita (MC) is a rare disorder characterized by stiffness and weakness of the limb and trunk muscles. Mutations in the gene encoding the alpha-subunit of the voltage-gated sodium channel Na1.4 have been reported to be responsible for sodium channel myotonia (SCM). Read More

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http://dx.doi.org/10.3390/ijms21072593DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7177622PMC

Unusual Clinical Presentation of Periodic Paralysis: Case Report and Literature Review.

Cureus 2020 Mar 9;12(3):e7227. Epub 2020 Mar 9.

Pulmonary Critical Care, Joan C. Edwards School of Medicine, Marshall University, Huntington, USA.

We are presenting a case of hypokalemic paralysis in a patient who presented to the emergency department (ED) with a unique clinical picture that did not fully fit with other causes of periodic paralysis (hypokalemic periodic paralysis, thyrotoxic periodic paralysis, hyperkalemic periodic paralysis, and Anderson syndrome). The patient presented to the ED complaining of two days of severe flaccid paralysis in both legs and left arm; his right arm was completely normal. Initially, he was treated as a stroke alert patient and had head and spine computed tomography (CT) scans and both showed no acute pathologic changes. Read More

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http://dx.doi.org/10.7759/cureus.7227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141806PMC

Hyperkalemic periodic paralysis aggravated by voltage - gate sodium channel blocker antiepileptic drug?

Med Hypotheses 2020 Jun 19;139:109683. Epub 2020 Mar 19.

Clinic for Internal Diseases, University Clinical Centre Tuzla, Bosnia and Herzegovina.

Hyperkalemic periodic paralysis (hyperkalemic PP) is a rare muscle disease that has onset in infancy or early childhood and is manifested by transient episodes of paralysis. In this case we presented a young male adult with attacks of weakness, after commencement of the antiepileptic drug - Carbamazepine. We hypothesize that Carbamazepine, as voltage-gate sodium channel blocker, aggravated the symptoms of hyperkalemic PP, as sodium channelopathies, in this young-male-patient, trough influence on membrane depolarization. Read More

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http://dx.doi.org/10.1016/j.mehy.2020.109683DOI Listing

Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients.

J Neurol Sci 2020 May 24;412:116795. Epub 2020 Mar 24.

Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Japan. Electronic address:

Periodic paralysis (PP) is a rare disease caused by abnormal excitability of the sarcolemma, resulting in the episodic weakness in extremities. Two major subtypes have been identified: primary/familial PP showing Mendelian inheritance of a mutation in the ion channel genes expressed in skeletal muscle, and secondary/sporadic PP which does not show Mendelian inheritance. Thyrotoxic periodic paralysis (TPP) contributes to the majority of secondary PP cases in Asians and Latin Americans, suggesting that genetic factors may underlie the pathogenesis. Read More

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http://dx.doi.org/10.1016/j.jns.2020.116795DOI Listing

Further evidence for shared genetic susceptibility in both sporadic and Thyrotoxic periodic paralysis.

Authors:
Stephen C Cannon

J Neurol Sci 2020 May 20;412:116794. Epub 2020 Mar 20.

Department of Physiology, David Geffen School of Medicine at UCLA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.116794DOI Listing

Skeletal muscle Ca1.1 channelopathies.

Pflugers Arch 2020 Mar 28. Epub 2020 Mar 28.

Department of Physiology and Medical Biophysics, Medical University Innsbruck, Schöpfstraße 41, A6020, Innsbruck, Austria.

Ca1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type calcium channel. Consequently, all known Ca1. Read More

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http://dx.doi.org/10.1007/s00424-020-02368-3DOI Listing

Thyrotoxic Periodic Paralysis: An Incidental Diagnosis!

Cureus 2020 Feb 19;12(2):e7041. Epub 2020 Feb 19.

Internal Medicine, Orange Park Medical Center, Orange Park, USA.

Thyrotoxic periodic paralysis is a rare presentation of thyrotoxicosis where the patient develops a transient motor deficit secondary to acute hypokalemia. The thyroid hormone augments gene transcription and post-transcriptional modification of Na-K ATPase, a cell membrane protein that regulates the electrical potential of the cell. Na-K ATPase increases active transport of potassium (K+) ions into the intracellular compartment causing hypokalemia without total body potassium deficit. Read More

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http://dx.doi.org/10.7759/cureus.7041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7083259PMC
February 2020

Child with acute weakness: don't forget the salts.

Arch Dis Child Educ Pract Ed 2020 Mar 16. Epub 2020 Mar 16.

Paediatric ED, Royal Belfast Hospital for Sick Children, Belfast, UK.

Case summaryA 10-year-old boy presented with severe progressive generalised weakness on a background of 3 days of diarrhoea and vomiting. Vital signs were normal. Peripheral neurological examination revealed grade 1-2 power in all limbs, hypotonia and hyporeflexia. Read More

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http://dx.doi.org/10.1136/archdischild-2019-318286DOI Listing

Persistent severe hyperkalemia following surgical treatment of aldosterone-producing adenoma.

J Res Med Sci 2020 20;25:17. Epub 2020 Feb 20.

Department of Endocrinology, University of Medicine and Pharmacy "Grigore T. Popa", Iaşi, Romania.

Primary aldosteronism is one of the most common causes of secondary hypertension. This condition is characterized by autonomous hypersecretion of aldosterone which produces sodium retention and potassium excretion, resulting in high blood pressure and potential hypokalemia. Transient postoperative hyporeninemic hypoaldosteronism with an increased risk of hyperkalemia may occur in some patients. Read More

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http://dx.doi.org/10.4103/jrms.JRMS_603_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7053163PMC
February 2020

THYROTOXIC PERIODIC PARALYSIS AND COMPLICATED THYROTOXICOSIS, TWO PRESENTATIONS OF HYPERTHYROIDISM WITH NOTABLE DIFFERENCES IN THEIR CLINICAL MANIFESTATIONS. AN EXPERIENCE FROM A TERTIARY CARE HOSPITAL IN THE UNITED STATES.

Endocr Pract 2020 Mar 11. Epub 2020 Mar 11.

From: 1 Department of Internal Medicine, Division of Endocrinology, Texas Tech University Health Science Center, Lubbock, Texas.

Thyrotoxic periodic paralysis (TPP) is a muscular disorder characterized by sudden episodes of muscle weakness and hypokalemia in the setting of thyrotoxicosis.

Objective: We aimed to report our experience with TPP in West Texas and compare its clinical presentation to that of patients admitted for complicated thyrotoxicosis.

Method: Retrospective review of records of adult patients with admission diagnosis of hyperthyroidism, thyrotoxicosis and/or discharge diagnosis of periodic paralysis seen at our institution in a six-year period. Read More

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http://dx.doi.org/10.4158/EP-2019-0454DOI Listing

Thyrotoxic periodic paralysis: A retrospective, observational study from India.

Indian J Med Res 2020 01;151(1):42-46

Department of Endocrinology, Command Hospital, Lucknow, Uttar Pradesh, India.

Background & Objectives: Thyrotoxic periodic paralysis (TPP) is an endocrine emergency presenting with acute-onset flaccid paralysis in a patient having thyrotoxicosis accompanied by hypokalaemia. This study was conducted to evaluate the clinical profile of patients with TPP presenting to three centres in India.

Methods: This retrospective, observational study was conducted at three tertiary care Armed Forces medical centres, located at Lucknow, Kolkata and Delhi. Read More

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http://dx.doi.org/10.4103/ijmr.IJMR_335_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055170PMC
January 2020
1.661 Impact Factor

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in .

Front Neurol 2020 13;11:77. Epub 2020 Feb 13.

Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.

The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene () has expanded with advancements in genetic testing. Autosomal dominant mutations were first linked to hyperkalemic periodic paralysis, then subsequently included paramyotonia congenita, several variants of myotonia, and finally hypokalemic periodic paralysis. Biallelic recessive mutations were later identified in myasthenic myopathy and in infants showing a severe congenital myopathy with hypotonia. Read More

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http://dx.doi.org/10.3389/fneur.2020.00077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031655PMC
February 2020

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.

Mol Genet Genomic Med 2020 Apr 27;8(4):e1175. Epub 2020 Feb 27.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Background: Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha-1 subunit of calcium channel. Few reports have documented the non-neuromuscular phenotypes of HypoPP. Read More

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http://dx.doi.org/10.1002/mgg3.1175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196457PMC

Identification of a novel PYGM mutation in a McArdle disease patient misdiagnosed as hypokalemic periodic paralysis.

J Endocrinol Invest 2020 May 25;43(5):697-698. Epub 2020 Feb 25.

Department of Endocrinology, The Third Xiangya Hospital Central South University, Tongzipo Road, Hunan Province, 410007, Changsha, People's Republic of China.

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http://dx.doi.org/10.1007/s40618-020-01202-yDOI Listing

In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis.

Clin Neurophysiol 2020 Apr 27;131(4):816-827. Epub 2020 Jan 27.

MRC Centre for Neuromuscular Diseases, Queen Square, Institute of Neurology, UCL, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

Objective: Hypokalaemic periodic paralysis (HypoPP) is caused by mutations of Ca1.1, and Na1.4 which result in an aberrant gating pore current. Read More

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http://dx.doi.org/10.1016/j.clinph.2019.12.414DOI Listing
April 2020
3.097 Impact Factor

Stroke Mimic: A Case of Unilateral Thyrotoxic Hypokalemic Periodic Paralysis.

Clin Pract Cases Emerg Med 2020 Feb 24;4(1):75-78. Epub 2020 Jan 24.

Madigan Army Medical Center, Department of Emergency Medicine, Tacoma, Washington.

Thyrotoxic hypokalemic periodic paralysis (THPP) is a condition that results in transient skeletal muscle paralysis secondary to intracellular potassium sequestration. Susceptible individuals often have an underlying channelopathy, which may be exacerbated by lifestyle factors or underlying medical comorbidities such as hyperthyroidism or diarrheal illness. Classically, THPP presents with paralysis of proximal extremity musculature. Read More

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http://dx.doi.org/10.5811/cpcem.2019.11.44966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012539PMC
February 2020

Anesthetic management of a patient with sodium-channel myotonia: a case report.

JA Clin Rep 2019 Nov 25;5(1):77. Epub 2019 Nov 25.

Department of Anesthesiology and Resuscitology, Okayama University Hospital, 2-5-1 Shikata-cho, kita-ku, Okayama City, Okayama, 700-8558, Japan.

Background: Sodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is much lower. To our knowledge, this is the first report on anesthetic management of a patient with SCM. Read More

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http://dx.doi.org/10.1186/s40981-019-0300-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6967029PMC
November 2019

Sleep disorders in Wilson disease: a systematic review and meta-analysis.

J Clin Sleep Med 2020 Feb 13;16(2):219-230. Epub 2020 Jan 13.

Department of Sleep Medicine, Mental Health Center of Shanou University, Shantou, China.

Study Objectives: Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism resulting in pathologic accumulation of copper in many organs and tissues. Sleep disorders are highly prevalent in patients with WD. However, both prevalence rates and severity of different sleep disorders in patients with WD vary widely. Read More

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http://dx.doi.org/10.5664/jcsm.8170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7053029PMC
February 2020

A Rare Presentation of Sjogren Syndrome as Hypokalemic Periodic Paralysis.

J Assoc Physicians India 2020 Jan;68(1):80

JJM Medical College.

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January 2020

A Case Series of Hypokalemic Periodic Paralysis.

J Assoc Physicians India 2020 Jan;68(1):59

Sawai Mansingh Hospital.

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January 2020

HYPOKALEMIC PERIODIC PARALYSIS IN A PATIENT WITH EUTHYROID GRAVES DISEASE AND CELIAC DISEASE.

AACE Clin Case Rep 2019 Jan-Feb;5(1):e73-e76. Epub 2019 Jan 30.

Objective: Thyrotoxic periodic paralysis is a sporadic form of hypokalemic periodic paralysis (HPP) that is most commonly seen in patients with Graves disease (GD) in association with acute thyrotoxicosis. A very few cases of HPP have been reported in patients with GD while the patient was euthyroid.

Methods: We describe a case of a 62-year-old Caucasian male with a history of GD, who presented with acute progressive bilateral lower extremity weakness. Read More

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http://dx.doi.org/10.4158/ACCR-2018-0206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876974PMC
January 2019

Thyrotoxic Periodic Paralysis.

J Ayub Med Coll Abbottabad 2019 Oct-Dec;31(4):619-621

Department of Medicine, Fatima Memorial Hospital, Lahore, Pakistan.

Thyrotoxic periodic paralysis is an uncommon disorder characterized by hypokalaemia, thyrotoxicosis and paralysis, most commonly seen in South Asian males. Aim of our case series is to highlight the significance of this reversible cause of patients presenting with neuromuscular paralysis. We present case series of 1 Asian and three Caucasian patients with thyrotoxic periodic paralysis who came with neuromuscular weakness secondary to thyrotoxicosis. Read More

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Low-dose oral propranolol for treatment of thyrotoxic periodic paralysis with hypokalaemia in the emergency department: A case report.

J Clin Pharm Ther 2020 Jan 8. Epub 2020 Jan 8.

Ronald O. Perelman Department of Emergency Medicine, NYU Langone Hospital-Brooklyn, Brooklyn, New York.

What Is Known And Objective: Thyrotoxic periodic paralysis (TPP) with hypokalaemia is a rare acute phenomenon. Reports of the use of high-dose non-selective β-blockers describe symptom resolution, but often administration does not occur promptly enough in the treatment course and patients may experience overcorrection and hyperkalaemia.

Case Description: A 37-year-old Hispanic male developed TPP. Read More

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http://dx.doi.org/10.1111/jcpt.13108DOI Listing
January 2020

Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience.

Int J Pediatr Adolesc Med 2019 Dec 14;6(4):158-164. Epub 2019 Jun 14.

Cardiovascular Genetics Program, Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by periodic paralysis, ventricular arrhythmia, and dysmorphic features. However, the classical features are not always seen in the syndrome; therefore, the diagnosis can be challenging. We describe our experience with ATS in Riyadh, Saudi Arabia, by presenting a case series involving four patients in the pediatric cardiology clinic confirmed to have ATS. Read More

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http://dx.doi.org/10.1016/j.ijpam.2019.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6926230PMC
December 2019

A rare case of hypokalemic ventricular tachycardia in a patient with thyrotoxic periodic paralysis.

Int J Crit Illn Inj Sci 2019 Oct-Dec;9(4):199-202. Epub 2019 Dec 11.

Department of Critical Care, St. Joseph's Regional Medical Center, Affiliate of New York Medical College of Medicine, Paterson, Newark, NJ, USA.

Thyrotoxic periodic paralysis (TPP) is a potentially fatal complication of hyperthyroidism, characterized by recurrent muscle paralysis and hypokalemia. We present a case of a 32-year-old apparently healthy male patient, who presented with acute paraparesis associated with hypokalemia (K: 1.6 mmol/L), complicated by ventricular tachycardia (VT). Read More

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http://dx.doi.org/10.4103/IJCIIS.IJCIIS_39_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927127PMC
December 2019

Thyrotoxic Periodic Paralysis: A Spine Consultation.

J Am Acad Orthop Surg Glob Res Rev 2019 Nov 4;3(11). Epub 2019 Nov 4.

Department of Orthopaedic Surgery, St. Joseph's University Medical Center, Paterson, NJ (Dr. Mease, Dr. Faloon, Dr. Dunn, Dr. Changoor, Dr. Sahai, and Dr. Emami), and the Department of Orthopaedic Surgery, University of Illinois College of Medicine, Chicago, IL (Dr. Hussain).

As a consultant, the orthopaedic spine surgeon is often asked to evaluate patients with acute-onset extremity weakness. In some cases, patient's deficits can be attributed to nonspinal pathology; therefore, it is important to be aware of nonorthopaedic diagnoses when evaluating these patients. We report a case of thyrotoxic periodic paralysis that was initially confused by the consulting service with spinal pathology. Read More

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http://dx.doi.org/10.5435/JAAOSGlobal-D-18-00082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6903823PMC
November 2019

Sudden Night Palsy in a Young Man: Thyrotoxic Periodic Paralysis as a First Manifestation of Hyperthyroidism.

Am J Med 2020 Jun 18;133(6):e300-e301. Epub 2019 Dec 18.

Department of Cardiology, Respiratory Medicine, Intensive Care, and Endocrinology, University Hospital Augsburg, University of Augsburg, Germany.

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http://dx.doi.org/10.1016/j.amjmed.2019.11.011DOI Listing

Episodic Muscle Disorders.

Continuum (Minneap Minn) 2019 Dec;25(6):1696-1711

Purpose Of Review: This article reviews the episodic muscle disorders, including benign cramp-fasciculation syndrome, the periodic paralyses, and the nondystrophic myotonias. The core diagnostic criteria for a diagnosis of primary periodic paralysis, including clues to distinguish between the hypokalemic and hyperkalemic forms, and the distinctive elements that characterize Andersen-Tawil syndrome are discussed. Management of patients with these disorders is also discussed. Read More

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http://dx.doi.org/10.1212/CON.0000000000000802DOI Listing
December 2019

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.

Sci Rep 2019 11 26;9(1):17560. Epub 2019 Nov 26.

MRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

The sarcolemmal voltage gated sodium channel Na1.4 conducts the key depolarizing current that drives the upstroke of the skeletal muscle action potential. It contains four voltage-sensing domains (VSDs) that regulate the opening of the pore domain and ensuing permeation of sodium ions. Read More

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http://dx.doi.org/10.1038/s41598-019-54041-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879752PMC
November 2019