2,651 results match your criteria Periodic Paralyses


Thyrotoxic periodic paralysis with ventricular tachycardia.

J Electrocardiol 2019 Apr 4;54:93-95. Epub 2019 Apr 4.

Department of Emergency Medicine, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Oral Hygiene, College of Oral Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address:

A 47-year-old man presented to our emergency department (ED) with limbs weakness for 2 h. His heart rate was 127 beats per minute and blood pressure was 95/49 mm Hg. He found weakness of limbs after 4-h sleep. Read More

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http://dx.doi.org/10.1016/j.jelectrocard.2019.04.001DOI Listing
April 2019
2 Reads

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G).

J Neurol 2019 Apr 1. Epub 2019 Apr 1.

Department of Neurophysiology, Ulm University, Albert Einstein-Allee 11, Ulm, Germany.

We report a young wheelchair-dependent patient with an unclear proximal myopathy and a heterozygous, de-novo Cav1.1-R1239G mutation suggesting hypokalemic periodic paralysis (HypoPP). Sonography showed a loss of the pennate pattern indicative of an edema, whereas fatty degeneration was excluded. Read More

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http://dx.doi.org/10.1007/s00415-019-09302-3DOI Listing

Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review.

Channels (Austin) 2019 12;13(1):110-119

b Department of Neurology, First Affiliated Hospital , Shanxi Medical University , Taiyuan , China.

Objective: To verify the diagnosis of channelopathies in two families and explore the mechanism of the overlap between periodic paralysis (PP) and paramyotonia congenita (PMC).

Methods: We have studied two cases with overlapping symptoms of episodic weakness and stiffness in our clinical center using a series of assessment including detailed medical history, careful physical examination, laboratory analyses, muscle biopsy, electrophysiological evaluation, and genetic analysis.

Results: The first proband and part of his family with the overlap of PMC and hyperkalemic periodic paralysis (HyperPP) has been identified as c. Read More

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http://dx.doi.org/10.1080/19336950.2019.1600967DOI Listing
December 2019
2 Reads
2.410 Impact Factor

Clinical and Etiological Spectrum of Hypokalemic Periodic Paralysis in a Tertiary Care Hospital in Pakistan.

Cureus 2019 Jan 19;11(1):e3921. Epub 2019 Jan 19.

Nephrology, Tulane University School of Medicine, New Orleans, USA.

Introduction Hypokalemic periodic paralysis (HPP) is characterized by muscle weakness secondary to low serum potassium levels. It may be primary in origin or there may be secondary causes like thyrotoxic periodic paralysis, renal or suprarenal causes, or non-renal causes like gastroenteritis. Aim To study the etiology, clinical manifestations, and outcome after therapy of patients with hypokalemic paralysis. Read More

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http://dx.doi.org/10.7759/cureus.3921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426562PMC
January 2019
2 Reads

Dengue fever presenting as quadriparesis due to hypokalaemia: a rare presentation.

BMJ Case Rep 2019 Mar 23;12(3). Epub 2019 Mar 23.

Medicine, Aga Khan University, Karachi, Pakistan.

Dengue is one of the leading causes of arthropod borne viral haemorrhagic fever. Majority of the times, it clinically manifests as fever, arthralgia and rash; however, we present a case of a young man who presented with progressively increasing weakness of all four limbs. Initial investigations showed low potassium, hence he was managed as hypokalaemic periodic paralysis. Read More

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http://dx.doi.org/10.1136/bcr-2018-227981DOI Listing
March 2019
2 Reads

Hypokalemic Periodic Paralysis- the importance of patient education.

Rom J Intern Med 2019 Jan 1. Epub 2019 Jan 1.

Division of Community Internal Medicine, Mayo Clinic, San Pablo Rd, Jacksonville, Florida, USA.

Hypokalemic periodic paralysis (HOKPP) is a rare neuromuscular disorder caused by altered transport of cellular potassium that leads to significant muscle weakness of the extremities. Paralytic attacks are induced by a drop in the serum potassium level and have been associated with specific triggers. This case describes a 21-year-old male who has had recurrent presentations of acute paralytic attacks following vigorous physical activity. Read More

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http://dx.doi.org/10.2478/rjim-2019-0004DOI Listing
January 2019
3 Reads

Development of a Closed-Loop Stimulator for Laryngeal Reanimation: Part 2. Device Testing in the Canine Model of Laryngeal Paralysis.

Ann Otol Rhinol Laryngol 2019 Mar;128(3_suppl):53S-70S

1 Department of Surgery, Harvard Medical School, Boston, MA, USA.

Objective:: Laryngeal paralysis of central or peripheral origin can potentially be treated using functional electrical stimulation (FES) of laryngeal muscles. Experiments in canines (dogs) were performed using implant prototypes capable of closed-loop FES to refine engineering designs and specifications, test surgical approaches for implantation, and better understand the in vivo effects of laryngeal muscle stimulation on short- and long-term glottic function.

Study Design:: Prospective, laboratory. Read More

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http://dx.doi.org/10.1177/0003489418820545DOI Listing
March 2019
8 Reads

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Acta Myol 2018 Sep 1;37(3):193-203. Epub 2018 Sep 1.

Division of Neurophysiology, Ulm University, Germany.

Introduction: Periodic paralyses (PP) are recurrent episodes of flaccid limb muscle weakness. Next to autosomal dominant forms, sporadic PP (SPP) cases are known but their genetics are unclear.

Methods: In a patient with hypokalemic SPP, we performed exome sequencing to identify a candidate gene. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390110PMC
September 2018
6 Reads

Recovery from acidosis is a robust trigger for loss of force in murine hypokalemic periodic paralysis.

J Gen Physiol 2019 Apr 7;151(4):555-566. Epub 2019 Feb 7.

Department of Physiology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA

Periodic paralysis is an ion channelopathy of skeletal muscle in which recurrent episodes of weakness or paralysis are caused by sustained depolarization of the resting potential and thus reduction of fiber excitability. Episodes are often triggered by environmental stresses, such as changes in extracellular K, cooling, or exercise. Rest after vigorous exercise is the most common trigger for weakness in periodic paralysis, but the mechanism is unknown. Read More

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http://dx.doi.org/10.1085/jgp.201812231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445579PMC
April 2019
1 Read

[A case of periodic thyrotoxic paralysis].

Authors:
G Kisoka X Bertrand

Rev Med Liege 2019 Jan;74(1):20-22

Département des Urgences, CHR Citadelle, Liège, Belgique.

Periodic thyrotoxic paralysis (TPP) is a disease that usually affects Asian men from 20 to 50 years. It is secondary to genetic mutations of ion channels for the transport of sodium and potassium. It is characterized by recurrent and brutal bouts of paresis / flaccid paralysis, without sensory involvement, in a context of hyperthyroidism. Read More

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January 2019
11 Reads

Case Report: Recurrent hypokalemic periodic paralysis associated with distal renal tubular acidosis (type 1) and hypothyroidism secondary to Hashimoto's thyroiditis.

F1000Res 2018 30;7:1154. Epub 2018 Jul 30.

Servicio de Medicina Interna y emergencia, Hospital Regional Lambayeque, Lambayeque, Peru.

Hypokalemic periodic paralysis (HypoKPP) is characterized by transient episodes of flaccid muscle weakness. We describe the case of a teenaged boy with HypoKPP and hyperthyroidism due to Hashimoto's thyroiditis with initial manifestation of renal tubular acidosis. This combination is rare and little described previously in men. Read More

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https://f1000research.com/articles/7-1154/v2
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http://dx.doi.org/10.12688/f1000research.15662.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325611.3PMC
July 2018
9 Reads

[Muscle weakness with hypokalemia and hyperthyroidism in an adolescent with Down syndrome].

Arch Argent Pediatr 2019 02;117(1):e37-e40

Servicio de Endocrinología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina.

Acute hypokalemic paralysis is a rare cause of acute weakness. Thyrotoxic periodic paralysis (TPP) is an unusual complication of hyperthyroidism. It is characterized by sudden onset of hypokalemia condition resulting from a shift of potassium into cells and paralysis that primarily affects the lower extremities. Read More

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http://dx.doi.org/10.5546/aap.2019.e37DOI Listing
February 2019
1 Read

EEG in WNV Neuroinvasive Disease.

J Clin Neurophysiol 2019 Mar;36(2):135-140

Department of Neurology, Mayo Clinic, Scottsdale, Arizona, U.S.A.

Purpose: Neuroinvasive West Nile virus (WNV) is rare, occurring in less than 1% of those infected, and may manifest as meningitis, encephalitis, and/or acute flaccid paralysis. Patients may present initially with nonspecific symptoms including fevers. Although rare, neuroinvasive WNV is associated with significant morbidity and mortality. Read More

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http://Insights.ovid.com/crossref?an=00004691-900000000-9948
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http://dx.doi.org/10.1097/WNP.0000000000000558DOI Listing
March 2019
16 Reads

Results of cystadenolymphoma treatment of superficial parotid gland.

Otolaryngol Pol 2018 Sep;72(6):23-30

Collegium Medicum Uniwersytetu Mikołaja Kopernika w Toruniu Klinika Otolaryngologii i Laryngologii Onkologicznej z Pododdziałem Audiologii i Foniatrii.

Introduction Warthin's tumor is a non-malignant tumor that occurs in major salivary glands. Diagnostics include an interview and physical examination as well as additional tests - ultrasonography, magnetic resonance tomography, fine-needle aspiration biopsy. Surgical tumor resection remains the method of treatment, the scope of which includes techniques from extracapsular tumor resection to a full range of parotidectomy. Read More

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http://dx.doi.org/10.5604/01.3001.0012.4667DOI Listing
September 2018
3 Reads

Prevalence of the E321G MYH1 variant for immune-mediated myositis and nonexertional rhabdomyolysis in performance subgroups of American Quarter Horses.

J Vet Intern Med 2019 Mar 8;33(2):897-901. Epub 2019 Jan 8.

Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, California.

Background: Immune-mediated myositis (IMM) in American Quarter Horses (QHs) causes acute muscle atrophy and lymphocytic infiltration of myofibers. Recently, an E321G mutation in a highly conserved region of the myosin heavy chain 1 (MYH1) gene was associated with susceptibility to IMM and nonexertional rhabdomyolysis.

Objectives: To estimate prevalence of the E321G MYH1 variant in the QH breed and performance subgroups. Read More

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http://doi.wiley.com/10.1111/jvim.15393
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http://dx.doi.org/10.1111/jvim.15393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430863PMC
March 2019
18 Reads

Thyroxine-induced periodic paralysis: a rare complication of nutritional supplements.

BMJ Case Rep 2018 Dec 13;11(1). Epub 2018 Dec 13.

Internal Medicine, Abington Hospital - Jefferson Health, Abington, PA, USA.

The consumption of daily nutritional supplements has risen dramatically all over the world. Many people believe that dietary supplements, if not useful, are at least safe to fulfil small dietary gaps. Many nutritional supplements have not been approved by Federal Drug Administration due to their unregulated active ingredients, but they are available as over the counter. Read More

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http://dx.doi.org/10.1136/bcr-2018-227946DOI Listing
December 2018
4 Reads

A Rare Case of Thyrotoxic Periodic Paralysis After Epidural Steroid Injection: A Case Report and Literature Review.

Am J Case Rep 2018 Dec 8;19:1453-1458. Epub 2018 Dec 8.

Department of Internal Medicine, Piedmont Athens Regional Medical Center, Athens, GA, USA.

BACKGROUND Thyrotoxic periodic paralysis (TPP) is a rare cause of acute paralysis, which if not promptly recognized and treated, can lead to significant morbidity and mortality. TPP can be precipitated by several factors, including a high carbohydrate diet and exercise. This report is of a rare case of TPP after epidural steroid injection in a young man, with a review of the literature of previous cases. Read More

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http://dx.doi.org/10.12659/AJCR.911270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293861PMC
December 2018
3 Reads

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

Pacing Clin Electrophysiol 2019 02 19;42(2):201-207. Epub 2018 Dec 19.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Background: Andersen-Tawil syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. Ventricular arrhythmias (VAs) are profound and difficult to control, but minimally symptomatic. In this report, we describe an atypical phenotype of ATS in two related families. Read More

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http://dx.doi.org/10.1111/pace.13569DOI Listing
February 2019
8 Reads

Can flecainide totally eliminate bidirectional ventricular tachycardia in pediatric patients with Andersen-Tawil syndrome?

Turk Kardiyol Dern Ars 2018 12;46(8):718-722

Department of Pediatric Cardiology and Arrhythmia, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey.

Andersen-Tawil syndrome (ATS) is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm, and developmental abnormalities. QT prolongation and ventricular arrhythmias, including bidirectional ventricular tachycardia (VT) and polymorphic VT, may occur. About 60% of all cases of the disorder arecaused by mutations in the KCNJ2 gene. Read More

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http://dx.doi.org/10.5543/tkda.2018.10.5543/tkda.2017.77856DOI Listing
December 2018
1 Read

Pharmaco-invasive Therapy with Fibrinolytic Agents: A Potent Lifesaving Reperfusion Strategy in STEMI Patients in Metro/Tier-I Cities in India.

J Assoc Physicians India 2018 May;66(5):76-82

Abbott Health Care Pvt. Ltd., Mumbai, Maharashtra.

Background: Primary Sjogren's Syndrome (pSS) with Hypokalemic Periodic Paralysis(HPP) whether an association or a different clinical subset needs review.

Aim: To generate a consensus on the importance of pharmaco-invasive therapy for STEMI patients when primary PCI cannot be expeditiously performed in metro and tier-I cities in India.

Methodology: A total of 8 expert panel groups comprising 48 experts from Cardiology specialty in India were convened. Read More

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May 2018
8 Reads

Clinical Profile of Primary Sjogren's Syndrome with Hypokalemic Periodic Paralysis.

J Assoc Physicians India 2018 May;66(5):69-70

Chief and Consultant Rheumatologist, Center for Rheumatic Diseases, Pune, Maharashtra.

Introduction: Primary Sjogren's Syndrome (pSS) with Hypokalemic Periodic Paralysis(HPP) whether an association or a different clinical subset needs review.

Methods: Cross-sectional retrospective study of subjects of Primary Sjogren's Syndrome with Hypokalemic Periodic Paralysis(HPP) identified from database maintained at Centre For Rheumatic Diseases, Pune since 1996 with records of over 50000 patients. The diagnosis was clinical. Read More

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May 2018
32 Reads

Periodic paralysis with normokalemia in a patient with hyperthyroidism: A case report.

Medicine (Baltimore) 2018 Nov;97(46):e13256

Department of Emergency Medicine, Kaohsiung Medical University Hospital.

Rationale: Thyrotoxic periodic paralysis is characterized by a sudden onset of hypokalemia and paralysis. This condition mainly affects the lower extremities and is secondary to thyrotoxicosis. The underlying hyperthyroidism is often subtle without typical symptoms such as palpitations, tremors, anxiety, and weight loss; this causes a difficulty in early diagnosis. Read More

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http://dx.doi.org/10.1097/MD.0000000000013256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257648PMC
November 2018
25 Reads

Thyrotoxic periodic paralysis complicated by life-threatening acute hypercapnic respiratory failure in a Chinese male with painless thyroiditis.

Am J Emerg Med 2019 Feb 7;37(2):379.e1-379.e3. Epub 2018 Nov 7.

Department of Endocrinology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, Wenzhou 325027, China. Electronic address:

Context: Thyrotoxic periodic paralysis (TPP) is a relatively common complication seen in Asian hyperthyroid patients. However, it is a rare occurrence to find a TPP case comprised of acute hypercapnic respiratory failure in patients with painless thyroiditis.

Patient: A 29-year-old Chinese man presented with flaccid paralysis of all four limbs and he was brought to emergency room. Read More

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http://dx.doi.org/10.1016/j.ajem.2018.11.010DOI Listing
February 2019
2 Reads

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Brain 2018 Dec;141(12):3308-3318

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.

Hypokalaemic periodic paralysis is a rare genetic neuromuscular disease characterized by episodes of skeletal muscle paralysis associated with low serum potassium. Muscle fibre inexcitability during attacks of paralysis is due to an aberrant depolarizing leak current through mutant voltage sensing domains of either the sarcolemmal voltage-gated calcium or sodium channel. We report a child with hypokalaemic periodic paralysis and CNS involvement, including seizures, but without mutations in the known periodic paralysis genes. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262219PMC
December 2018
6 Reads

A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

Sci Rep 2018 Nov 12;8(1):16681. Epub 2018 Nov 12.

Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), F-75013, Paris, France.

Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP) forms. The dominantly-inherited form of hyperPP is caused by overactivity of Na1.4 - the skeletal muscle voltage-gated sodium channel. Read More

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http://www.nature.com/articles/s41598-018-34750-8
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http://dx.doi.org/10.1038/s41598-018-34750-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232142PMC
November 2018
17 Reads

Renal Tubular Acidosis and Hypokalemic Paralysis as a First Presentation of Primary Sjögren's Syndrome.

Case Rep Nephrol 2018 16;2018:9847826. Epub 2018 Oct 16.

Pulmonology and Critical Care Unit, Department of Medicine, Chitwan Medical College, Bharatpur, Chitwan, Nepal.

Sjögren's syndrome is an autoimmune disease with multisystem involvement and varying clinical presentation. We report the clinical course and outcome of a case who presented with repeated episodes of hypokalemia mimicking hypokalemic periodic paralysis and metabolic acidosis, which was later diagnosed as distal renal tubular acidosis secondary to primary Sjögren's syndrome. A 50-year-old lady, who was previously diagnosed as hypokalemic periodic paralysis, presented with generalized weakness and fatigue. Read More

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http://dx.doi.org/10.1155/2018/9847826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206514PMC
October 2018
8 Reads

Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review.

BMC Endocr Disord 2018 Nov 8;18(1):82. Epub 2018 Nov 8.

The Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.

Background: Gitelman syndrome (GS) is an inherited autosomal recessive renal tubular disorder characterized by low levels of potassium and magnesium in the blood, decreased excretion of calcium in the urine, and elevated blood pH. GS is caused by an inactivating mutation in the SLC12A3 gene, which is located on the long arm of chromosome 16 (16q13) and encodes a thiazide-sensitive sodium chloride cotransporter (NCCT).

Case Presentation: A 45-year-old man with Graves' disease complicated by paroxysmal limb paralysis had a diagnosis of thyrotoxic periodic paralysis for 12 years. Read More

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http://dx.doi.org/10.1186/s12902-018-0298-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225570PMC
November 2018
3 Reads

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.

Neurotherapeutics 2018 10;15(4):885-899

Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.

Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of congenital myopathies. Historically, RYR1-RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy. Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. Read More

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http://link.springer.com/10.1007/s13311-018-00677-1
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http://dx.doi.org/10.1007/s13311-018-00677-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277304PMC
October 2018
8 Reads

[A case of hyperkalemic periodic paralysis presenting progressive myopathy with tubular aggregates].

Rinsho Shinkeigaku 2018 Nov 27;58(11):663-667. Epub 2018 Oct 27.

Department of Neurology, Osaka City General Hospital.

A 33-year-old man admitted to our hospital for the evaluation of progressive muscular atrophy of his left lower leg. From his childhood, he had suffered from transient attacks of limb paralysis and myalgia lasting about 1 hour. At age 30, the muscle weakness and atrophy of his left lower leg emerged and progressed gradually. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-001137DOI Listing
November 2018
2 Reads

Micro-planning for immunization in Kaduna State, Nigeria: Lessons learnt, 2017.

Vaccine 2018 11 23;36(48):7361-7368. Epub 2018 Oct 23.

Kaduna State Primary Health Care Agency, Kaduna, Nigeria.

Background: The OPV 3 coverage for Kaduna State, 12-23 months old children was 34.4%. The low OPV 3 coverage, due mainly to weak demand for routine antigens and the need to rapidly boost population immunity against the disabling Wild Polio Virus (WPV), led the Global Polio Eradication Initiatives (GPEI) to increase supplemental OPV campaigns in Kaduna State, despite the huge cost and great burden on personnel. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0264410X183138
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http://dx.doi.org/10.1016/j.vaccine.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238078PMC
November 2018
19 Reads

Skeletal Muscle Channelopathies.

Neurotherapeutics 2018 10;15(4):954-965

Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas, 75390, USA.

Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. These disorders cause lifetime disability and impact quality of life. Despite advances in understanding of the molecular pathology of these disorders, the diverse phenotypic manifestations remain a challenge in diagnosis, therapeutic, genetic counseling, and research planning. Read More

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http://dx.doi.org/10.1007/s13311-018-00678-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277285PMC
October 2018
3 Reads

Increased promoter activity as a mechanism in atypical normokalemic periodic paralysis.

Neurol Genet 2018 Oct 3;4(5):e274. Epub 2018 Oct 3.

Center for Undiagnosed and Rare Diseases (ZusE) (M.S., T.M., B.K., J.R.S.); Department of Cardiology (V.R.) and Department of Neurology (R.D.), University Hospital Giessen and Marburg; Vegetative Physiology (S.R., N.D.), Philipps-University Marburg, Institute of Physiology and Pathophysiology, & Marburg Center for Mind, Brain and Behavior, Marburg, Germany; Institute for Algebra (G.P.), Johannes Kepler University Linz; and Department of Gastroenterology (A.M.), Hospital Elisabethinen, Linz, Austria.

Objective: To identify the genetic basis of a patient with symptoms of normokalemic sporadic periodic paralysis (PP) and to study the effect of mutations.

Methods: A candidate gene approach was used to identify causative gene mutations, using Sanger sequencing. promoter activity was analyzed in transfected HEK293 cells with a luciferase assay, and functional analysis of Kir2. Read More

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186026PMC
October 2018
20 Reads

Thyrotoxic hypokalemic periodic paralysis: a life-threatening disorder in Asian men.

Trop Doct 2019 Jan 10;49(1):49-51. Epub 2018 Oct 10.

2 Professor, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Thyrotoxicosis can present as a sporadic form of hypokalaemic periodic paralysis. The condition is associated with massive intracellular shift of potassium, mainly in skeletal muscles. As the total body stores of potassium remain normal, overzealous potassium supplementation targeting serum potassium level results in a poor outcome. Read More

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http://dx.doi.org/10.1177/0049475518803251DOI Listing
January 2019
6 Reads

[Analysis of clinical phenotypes and KCNJ2 gene mutations in a Chinese pedigree affected with Andersen-Tawil syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Oct;35(5):675-678

Department of Pediatrics, Beijing Jishuitan Hospital, Beijing 100035, China.

Objective: To analyze the clinical phenotypes of a pedigree affected with periodic paralysis and explore its molecular basis.

Methods: Clinical data and peripheral blood samples of the pedigree were collected. The proband and his father both complained of periodic paralysis and dysmorphic features. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.05.012DOI Listing
October 2018

The study of exercise tests in paroxysmal kinesigenic dyskinesia.

Clin Neurophysiol 2018 Nov 15;129(11):2435-2441. Epub 2018 Sep 15.

Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:

Objective: To unravel if there was muscular ion channel dysfunction in paroxysmal kinesigenic dyskinesia (PKD) patients using the exercises tests (ET).

Methods: Sixty PKD patients including 28 PRRT2 mutations carriers were enrolled in this study, as well as 19 hypokalaemic periodic paralysis (HypoPP) patients as the positive controls and 45 healthy subjects as the negative controls. ET including long exercise test (LET) and short exercise test (SET) was performed in the corresponding subjects. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183122
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http://dx.doi.org/10.1016/j.clinph.2018.09.004DOI Listing
November 2018
15 Reads
3.100 Impact Factor

Spectrum of Hypokalemic Paralysis from a Tertiary Care Center in India.

Indian J Nephrol 2018 Sep-Oct;28(5):365-369

Institute of Nephrology, Madras Medical College, The Tamilnadu Dr MGR Medical University, Chennai, Tamil Nadu, India.

Hypokalemic paralysis is an important and reversible cause of acute flaccid paralysis. The treating physician faces unique diagnostic and therapeutic challenges. We did a prospective study and included all patients with acute flaccid weakness and documented serum potassium of <3. Read More

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http://dx.doi.org/10.4103/ijn.IJN_225_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146732PMC
October 2018
4 Reads

Secondary hypokalemic periodic paralysis as a rare clinical presentation of Conn syndrome.

Clin Neurophysiol 2018 Nov 15;129(11):2505-2506. Epub 2018 Sep 15.

Institute of Neurology, Catholic University of the Sacred Heart, Fondazione Policlinico A. Gemelli, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183122
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http://dx.doi.org/10.1016/j.clinph.2018.09.003DOI Listing
November 2018
25 Reads
3.097 Impact Factor

Hypokalemic thyrotoxic periodic paralysis. Report of one case.

Med Clin (Barc) 2018 Sep 17. Epub 2018 Sep 17.

Departamento de Medicina Interna, Hospital Corporació Parc Taulí, Sabadell, Barcelona, España.

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https://linkinghub.elsevier.com/retrieve/pii/S00257753183050
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http://dx.doi.org/10.1016/j.medcli.2018.07.008DOI Listing
September 2018
18 Reads

Thyrotoxic periodic paralysis: case report and review of the literature.

Electron Physician 2018 Aug 25;10(8):7174-7179. Epub 2018 Aug 25.

MD., Assistant Professor, Department of Internal Medicine, University of Mississippi Medical Center, Jackson, USA.

Introduction: Thyrotoxic periodic paralysis (TPP) is a rare and potentially lethal complication of hyperthyroidism. It is characterized by sudden onset paralysis associated with hypokalemia. Management includes prompt normalization of potassium, which results in resolution of the paralysis. Read More

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http://dx.doi.org/10.19082/7174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122872PMC
August 2018
6 Reads

Lift Then Shift: Thyrotoxic Periodic Paralysis.

Am J Med 2019 Jan 7;132(1):e3-e6. Epub 2018 Sep 7.

Department of Medicine, University of California, San Francisco, School of Medicine, San Francisco; Medical Service, Veterans Affairs Medical Center, San Francisco, Calif.

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http://dx.doi.org/10.1016/j.amjmed.2018.08.015DOI Listing
January 2019

Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients.

Neuromuscul Disord 2018 Oct 30;28(10):837-845. Epub 2018 Jun 30.

Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.

Hyperkalemic periodic paralysis (hyperKPP) is a muscle channelopathy characterized by recurrent paralytic attacks. Our previous study, in which we conducted whole-body muscle magnetic resonance imaging (MRI) in patients with hyperKPP, revealed muscle atrophy and fatty change in the lower extremity, especially in older persons. The aim of current study was to identify the progression of myopathy in hyperKPP patients had been assessed in the previous study. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.06.008DOI Listing
October 2018
11 Reads

Unilateral renal artery stenosis presenting as acute flaccid paralysis: a rare presentation.

BMJ Case Rep 2018 Aug 31;2018. Epub 2018 Aug 31.

Department of Endocrinology and Medicine Unit 5, Pt. B.D.Sharma PGIMS, Rohtak, Haryana, India.

Renovascular hypertension is one of the common causes of secondary hypertension. Here we report a case of patient of renal artery stenosis presenting to the emergency department as a case of acute flaccid paralysis. Renal artery stenosis has been associated with hypokalaemia, but rarely reported to be symptomatic. Read More

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http://dx.doi.org/10.1136/bcr-2018-225889DOI Listing
August 2018
4 Reads

Thyrotoxic hypokalemic periodic paralysis.

QJM 2018 Dec;111(12):887-889

Department of Internal Medicine, Hospital Marqués de Valdecilla-IDIVAL, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1093/qjmed/hcy186DOI Listing
December 2018

Thyrotoxic Periodic Paralysis and Cardiomyopathy in a Patient with Graves' Disease.

Cureus 2018 Jun 19;10(6):e2837. Epub 2018 Jun 19.

Critical Care, Maimonides Medical Center, Brooklyn, USA.

Thyrotoxic periodic paralysis (TPP) and cardiomyopathy are two established complications of thyrotoxicosis. Emergent management is essential as TPP and cardiac events secondary to thyrotoxic cardiomyopathy can be fatal. We report a unique case of a patient with Graves' disease presenting with symptoms secondary to both these complications. Read More

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http://dx.doi.org/10.7759/cureus.2837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101465PMC
June 2018
5 Reads

Bitter experience with liquorice sweetening agent resulting in apparent mineralocorticoid excess with periodic paralysis.

BMJ Case Rep 2018 Aug 10;2018. Epub 2018 Aug 10.

Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, Tamil Nadu, India.

Chronic liquorice ingestion is a rare cause of secondary hypertension and hypokalaemia with periodic paralysis. We report the case of a middle-aged Indian man who presented with hypertension and hypokalaemic alkalosis with recurrent bouts of periodic paralysis. Biochemical investigations revealed suppressed plasma renin and aldosterone concentrations with normal cortisol concentration. Read More

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http://dx.doi.org/10.1136/bcr-2018-225686DOI Listing
August 2018
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Etiological Search and Epidemiological Profile in Patients Presenting with Hypokalemic Paresis: An Observational Study.

Indian J Endocrinol Metab 2018 May-Jun;22(3):397-404

Department of Medicine, Midnapore Medical College and Hospital, Medinipur, West Bengal, India.

Introduction: Hypokalemia is associated with increased morbidity and at times mortality. "Hypokalemic paralysis", particularly if recurrent, has often been considered synonymous with "hypokalemic periodic paralysis (HPP)"; however, diseases such as Gitelman syndrome (GS), Bartter syndrome (BS), and renal tubular acidosis (RTA) can have identical presentation. We have tried to explore the etiological spectrum along with epidemiological and certain clinical, biochemical, and electrophysiological features in patients with hypokalemic paralysis. Read More

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http://www.ijem.in/text.asp?2018/22/3/397/236794
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http://dx.doi.org/10.4103/ijem.IJEM_633_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063177PMC
August 2018
5 Reads

Phenotypical Variation with Same Genetic Mutation in Familial Hypokalemic Periodic Paralysis.

J Pediatr Neurosci 2018 Apr-Jun;13(2):218-220

Royal College of Pediatrics and Child Health, London, United Kingdom.

Hypokalemic periodic paralysis is a genetic neuromuscular disorder characterized by episodes of painless muscle paralysis associated with low serum potassium, exclusively, during the attack. This may be precipitated by heavy exercise, fasting, or high-carbohydrate meals. We report two siblings, presenting at different ages with varying symptomatology-older sibling with episodic weakness in the morning associated with reduced physical exercise and consumption of large carbohydrate meal, whereas younger sibling complained of muscle stiffness following large carbohydrate meal and at the end of physical exercise. Read More

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http://dx.doi.org/10.4103/jpn.JPN_44_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057184PMC
August 2018
2 Reads