2,929 results match your criteria Periodic Paralyses

Structural Advances in Voltage-Gated Sodium Channels.

Front Pharmacol 2022 3;13:908867. Epub 2022 Jun 3.

Laboratory of Soft Matter Physics, Institute of Physics, Chinese Academy of Sciences, Beijing, China.

Voltage-gated sodium (Na) channels are responsible for the rapid rising-phase of action potentials in excitable cells. Over 1,000 mutations in Na channels are associated with human diseases including epilepsy, periodic paralysis, arrhythmias and pain disorders. Natural toxins and clinically-used small-molecule drugs bind to Na channels and modulate their functions. Read More

View Article and Full-Text PDF

Conn's Syndrome: An Unusual Cause of Periodic Paralysis.

Cureus 2022 May 10;14(5):e24880. Epub 2022 May 10.

Internal Medicine, Hospital Beatriz Ângelo, Loures, PRT.

Primary hyperaldosteronism, also known as Conn's syndrome, is characterized by an independent and excessive aldosterone production in the adrenal cortex, causing hypernatremia, arterial hypertension, and, in some cases, potentially severe hypokalemia can occur. We report a case of a 45-year-old Caucasian woman, with a history of obesity and hypertension, who presented to the emergency room with a four-week evolution history of myalgia and ascending muscle weakness eventually resulting in tetraparesis. The initial blood analysis showed severe hypokalemia (1. Read More

View Article and Full-Text PDF

Parasomnias and Sleep-Related Movement Disorders in Older Adults.

Alex Iranzo

Sleep Med Clin 2022 Jun 22;17(2):295-305. Epub 2022 Apr 22.

Neurology Service, Hospital Clinic de Barcelona, C/ Villarroel 180, Barcelona 08036, Spain. Electronic address:

Sleep paralysis is rare in the elderly but may occur particularly in families suffering from this phenomenon. In a minority of patients with disorders of arousal, the episodes persist until the age of 70. Zolpidem and other medications may induce sleepwalking and sleep eating-related syndrome. Read More

View Article and Full-Text PDF

Impact of periodic intensification of routine immunization within an armed conflict setting and COVID-19 outbreak in Cameroon in 2020.

Confl Health 2022 Jun 2;16(1):29. Epub 2022 Jun 2.

Faculty of Health Science, University of Buea, Buea, Cameroon.

Introduction: Cameroon's Southwest Region (SW) has been hit by an armed conflict for over half a decade now, negatively affecting the region's routine immunization and disease surveillance activities. This negative effect was further acerbated by the COVID-19 pandemic, which alongside the conflict, caused thousands of children to miss out on life-saving vaccinations. Herein, we present the contribution of periodic intensification of routine immunization in improving immunization and surveillance activities amid crises. Read More

View Article and Full-Text PDF

Case report: Hyperthyroid hypokalemic periodic paralysis.

Ann Med Surg (Lond) 2022 Jun 16;78:103759. Epub 2022 May 16.

Internship at Department of Medicine, Kist Medical College, Kathmandu, Nepal.

Introduction And Importance: HHPP is a rare type of hypokalemic PP that can occur when there is hyperthyroidism.Thyrotoxic periodic paralysis is due to increased influx of potassium into skeletal muscle cells which leads to profound hypokalemia and paralysis. Insulin and Epinephrine are also responsible for stimulating the Na-K-ATPase pumps which are over expressed during hyperthyroid state. Read More

View Article and Full-Text PDF

A long survival case of spinal nephroblastoma in a dog.

Open Vet J 2022 Mar-Apr;12(2):188-191. Epub 2022 Mar 19.

Department of Veterinary Surgery, Joint Faculty of Veterinary Science, Yamaguchi University, Yamaguchi, Japan.

Background: Dogs' nephroblastoma of the spinal cord is a rare neoplastic disease, with few reports of long-term survival after surgery. We experienced that surgical treatment with postoperative radiation therapy for spinal nephroblastoma in a dog resulted in the long-term survival of 11 years.

Case Description: The patient presented to our veterinary hospital because of progressive hindlimb paralysis. Read More

View Article and Full-Text PDF

Subacute thyroiditis associated with thyrotoxic periodic paralysis after COVID-19 vaccination: a case report.

Endocrinol Diabetes Metab Case Rep 2022 May 1;2022. Epub 2022 May 1.

Department of Diabetes and Endocrinology, Sapporo City General Hospital, Sapporo, Japan.

Summary: We report a 26-year-old Japanese man who visited our outpatient clinic presenting fever immediately after i.m. injection of the second dose of a coronavirus disease 2019 (COVID-19) vaccine (Moderna®). Read More

View Article and Full-Text PDF

Hypokalemic Periodic Paralysis: An Atypical Presentation of Non-autoimmune Hypothyroidism With Distal Renal Tubular Acidosis.

Cureus 2022 Apr 11;14(4):e24046. Epub 2022 Apr 11.

Internal Medicine, Rehman Medical Institute, Peshawar, PAK.

Hypokalemic periodic paralysis (hypo KPP) is a rare form of autosomal dominant channelopathy characterized by muscular weakness and paralysis caused by decreased potassium levels. Precipitating factors are a diet rich in starches and sweets, and rest after an unusual degree of exercise. Paralytic attacks are more common between the ages of 15 and 40 years. Read More

View Article and Full-Text PDF

Renal tubular acidosis and nephrogenic diabetes insipidus caused by Sjögren's syndrome with hypokalemic periodic paralysis as the first symptom: A case report.

Rev Neurol (Paris) 2022 May 11. Epub 2022 May 11.

Affiliated Hospital of North Sichuan Medical College Nanchong, 637000 Sichuan, China.

View Article and Full-Text PDF

Acute Flaccid Tetraparesis after COVID-19 Infection: Think of the Thyroid.

Case Rep Med 2022 29;2022:5827664. Epub 2022 Apr 29.

Department of Endocrinology, Changi General Hospital, Singapore.

A previously well 32-year-old Chinese male presented with acute bilateral upper and lower limb paralysis upon waking, ten days after the onset of COVID-19 infection. Examination revealed areflexia over all four limbs, associated with reduced muscle strength, but no sensory or cranial nerve deficit. Initial concern was Guillain-Barre syndrome given the acute flaccid paralysis following COVID-19 infection. Read More

View Article and Full-Text PDF

Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report.

Cureus 2022 Apr 2;14(4):e23760. Epub 2022 Apr 2.

Neuromuscular Diseases, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, MEX.

Several clinical phenotypes have been described related to the gene (calcium channel voltage-dependent L-type alpha-1S subunit), such as autosomal dominant hypokalemic periodic paralysis 1 and autosomal dominant malignant hyperthermia susceptibility and are associated with autosomal dominant and recessive congenital myopathy. Recently, an interesting case of a 58-year-old male patient was published describing an unusual clinical presentation of hypokalemic periodic paralysis where a late-onset limb-girdle myopathy had developed 41 years after paralysis occurred when the patient was 11 years old. Muscle biopsy results were consistent with myopathic changes and revealed the presence of vacuoles, without inflammatory reaction. Read More

View Article and Full-Text PDF

[Muscle weakness in the extremities in a man with Graves' disease].

Ugeskr Laeger 2022 May;184(18)

Endokrinologisk Afsnit, Københavns Universitetshospital - Amager Hospital.

A 42-year-old man of Chinese descent, known to have Graves' disease, presented with muscle weakness. Neurological examination showed paralysis of the arms and legs, with intact sensory function, while blood-test revealed hypokalaemia and thyrotoxicosis. The neurological symptoms resolved quickly after correction of the serum potassium level. Read More

View Article and Full-Text PDF

Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.

Eur J Neurol 2022 Apr 23. Epub 2022 Apr 23.

Reference Center for Neuromuscular Disorders, APHP, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.

Background And Purpose: Andersen-Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. The muscle phenotype, particularly the atypical forms with prominent permanent weakness or predominantly painful symptoms, remains incompletely characterized.

Methods: A retrospective clinical, histological, electroneuromyography (ENMG) and genetic analysis of molecularly confirmed ATS patients, diagnosed and followed up at neuromuscular reference centers in France, was conducted. Read More

View Article and Full-Text PDF

Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome.

Eur J Med Genet 2022 Jun 14;65(6):104499. Epub 2022 Apr 14.

Hacettepe University Faculty of Medicine, Department of Child Health and Diseases, Unit of Cardiology, Ankara, Turkey.

Andersen-Tawil syndrome is a rare autosomal dominant genetic or sporadic disorder characterized by periodic paralysis, ventricular arrhythmias and dysmorphic features. Ventricular arrhythmias can include frequent premature ventricular complex, polymorphic ventricular tachycardia, and less frequently bidirectional ventricular tachycardia. Left ventricle function has been reported in only a few individual cases of Andersen-Tawil syndrome. Read More

View Article and Full-Text PDF

Atypical Fracture of Femur in Association with Familial Hypokalemic Periodic Paralysis: A Case Report.

J Orthop Case Rep 2021 Dec;11(12):69-72

Department of Trauma and Emergency, Orthopaedics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

Introduction: Hypokalemic periodic paralysis (HPP) is an important and a reversible but rare cause of paralysis. Periodic paralyses are of two types. The first one is primary which is also known as familial type and the second one is secondary periodic paralysis which is due to other underlying pathologies [1]. Read More

View Article and Full-Text PDF
December 2021

Respiratory Muscle Weakness in Thyrotoxic Periodic Palsy: A Lesson to Remember.

Ann Neurosci 2021 Jul 8;28(3-4):179-182. Epub 2021 Nov 8.

Department of Internal Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Thyrotoxic periodic palsy (TPP) is a sporadic form of hypokalemic periodic palsy that may occur in association with hyperthyroidism mostly with Graves' disease. Acute thyrotoxic periodic palsy is a disorder most commonly seen in Asian men and characterized by abrupt onset of hypokalemia and paralysis. The disorder primarily affects the lower extremities and can involve all four limbs and presents as acute flaccid paralysis. Read More

View Article and Full-Text PDF

Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles.

Neuromuscul Disord 2022 04 26;32(4):347-357. Epub 2022 Feb 26.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology and Clinical Neurophysiology, Guy's & St Thomas' NHS Foundation Trust and Institute of Psychiatry, Psychology & Neuroscience, Division of Neuroscience, King's College London, United Kingdom.

Mouse models of skeletal muscle channelopathies are not phenocopies of human disease. In some cases (e.g. Read More

View Article and Full-Text PDF

Sporadic adult-onset brainstem hyperkalemic periodic paralysis masquerading as recurrent transient ischemic attacks.

Clin Case Rep 2022 Mar 16;10(3):e05609. Epub 2022 Mar 16.

Department of Neurology University of Colorado School of Medicine Colorado Springs Branch Colorado Springs Colorado USA.

We report a case of adult-onset, sporadic, hyperkalemic periodic paralysis with primary brainstem musculature symptoms masquerading as recurrent transient ischemic attacks. Unilateral brainstem weakness could be induced with rapid eye blinking, which was followed by lower extremity weakness and cramping. Treatment with acetazolamide and albuterol ameliorated the patient's attacks. Read More

View Article and Full-Text PDF

When cardiology meets endocrinology: sustained atrial flutter associated with thyrotoxic periodic paralysis.

Oxf Med Case Reports 2022 Mar 16;2022(3):omac020. Epub 2022 Mar 16.

Department of Cardiovascular Disease, Cleveland Clinic Florida, Weston, FL, USA.

Periodic paralysis is a rare muscle disease that manifests as episodes of painless muscle weakness, and the hypokalemic form is commonly associated with hyperthyroidism. Most tachyarrhythmias related with thyrotoxicosis include sinus tachycardia and atrial fibrillation, but an association between thyrotoxic hypokalemic periodic paralysis and typical atrial flutter has seldomly been documented. Here, we present the case of a young male who was diagnosed with thyrotoxic periodic paralysis causing cavotricuspid isthmus-dependent atrial flutter, successfully treated with diltiazem, propranolol, methimazole, potassium iodine (SSK) and rivaroxaban. Read More

View Article and Full-Text PDF

Hypokalemic periodic paralysis and renal tubular acidosis in a patient with hypothyroid and autoimmune disease.

Ann Med Surg (Lond) 2022 Mar 22;75:103389. Epub 2022 Feb 22.

Department of Clinical Pathology, Faculty of Medicine, Universitas Airlangga - Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.

Background: Hypokalemic periodic paralysis (HPP) is a rare muscle disorder characterized by episodic muscle weakness that can lead to respiratory failure. This disorder is a common manifestation of renal tubular acidosis. Renal tubular acidosis can occur associated with various systemic disorders such as Sjogren's syndrome and thyroid disorders. Read More

View Article and Full-Text PDF

Electrocardiographic Manifestation in Thyrotoxic Periodic Paralysis.

Cureus 2022 Jan 25;14(1):e21619. Epub 2022 Jan 25.

Internal Medicine, School of Medicine and Health Sciences, Atma Jaya Catholic University of Indonesia, Jakarta, IDN.

Thyrotoxic periodic paralysis (TPP) is an unusual complication of hyperthyroidism that may cause diagnostic difficulties due to its clinical feature that may be similar to other diseases. However, TPP can be detected early based on the weakness presentation, which generally affects the lower extremity with proximal muscle involvement, and, additionally, the ECG findings presenting hypokalemia characteristics. This case illustrates a young Indonesian male presenting in the emergency department with paralysis and typical ECG findings suggesting TPP. Read More

View Article and Full-Text PDF
January 2022

Inwardly Rectifying Potassium Channel Kir2.1 and its "Kir-ious" Regulation by Protein Trafficking and Roles in Development and Disease.

Front Cell Dev Biol 2021 9;9:796136. Epub 2022 Feb 9.

Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, United States.

Potassium (K) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders. A family of inwardly rectifying potassium (Kir) channels helps cells maintain K levels. Read More

View Article and Full-Text PDF
February 2022

Thyrotoxic periodic paralysis (TPP): assessment in the emergency department.

BMJ Case Rep 2022 Feb 25;15(2). Epub 2022 Feb 25.

Imperial College Healthcare NHS Trust, London, UK.

A male patient aged in his early twenties presented to the emergency department (ED) with quadriparesis. He was ordinarily fit and well and had exercised and eaten a carbohydrate rich meal the evening before. His point-of-care venous blood sample on arrival to the ED showed hypokalaemia of 1. Read More

View Article and Full-Text PDF
February 2022

Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.

Brain Sci 2022 Jan 28;12(2). Epub 2022 Jan 28.

Neuromuscular Unit, Department of Neurosciences "Rita Levi Montalcini", University of Turin, 10126 Turin, Italy.

Mental disorders are observed in neuromuscular diseases, especially now that patients are living longer. Psychiatric symptoms may be severe and psychopharmacological treatments may be required. However, very little is known about pharmacotherapy in these conditions. Read More

View Article and Full-Text PDF
January 2022

Development of high-affinity nanobodies specific for Na1.4 and Na1.5 voltage-gated sodium channel isoforms.

J Biol Chem 2022 04 21;298(4):101763. Epub 2022 Feb 21.

Department of Biophysics and Biophysical Chemistry, The Johns Hopkins School of Medicine, Baltimore, Maryland, USA; Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Electronic address:

Voltage-gated sodium channels, Nas, are responsible for the rapid rise of action potentials in excitable tissues. Na channel mutations have been implicated in several human genetic diseases, such as hypokalemic periodic paralysis, myotonia, and long-QT and Brugada syndromes. Here, we generated high-affinity anti-Na nanobodies (Nbs), Nb17 and Nb82, that recognize the Na1. Read More

View Article and Full-Text PDF

Ageing contributes to phenotype transition in a mouse model of periodic paralysis.

JCSM Rapid Commun 2021 Jul-Dec;4(2):245-259. Epub 2021 May 5.

Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK.

Background: Periodic paralysis (PP) is a rare genetic disorder in which ion channel mutation causes episodic paralysis in association with hyper- or hypokalaemia. An unexplained but consistent feature of PP is that a phenotype transition occurs around the age of 40, in which the severity of potassium-induced muscle weakness declines but onset of fixed, progressive weakness is reported. This phenotype transition coincides with the age at which muscle mass and optimal motor function start to decline in healthy individuals. Read More

View Article and Full-Text PDF

Andersen-Tawil Syndrome With Novel Mutation in : Case Report.

Front Pediatr 2021 31;9:790075. Epub 2022 Jan 31.

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, South Korea.

Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. Pathogenic variants of the inwardly rectifying potassium channel subfamily J member 2 (KCNJ2) gene have been linked to the ATS. Herein, we report a novel causative variant in a proband and her father showing different ATS-associated symptoms. Read More

View Article and Full-Text PDF
January 2022

The role of nephrologists in management of hypokalemic periodic paralysis: a case report.

J Med Case Rep 2022 Feb 11;16(1):65. Epub 2022 Feb 11.

Nephrology Associates of Northern Illinois and Indiana, Hinsdale, IL, USA.

Background: Hypokalemic periodic paralysis is a chronic condition characterized by sporadic attacks of weakness associated with acute hypokalemia. Attacks are typically associated with specific triggers, such as prolonged rest following exercise or consumption of a high-carbohydrate meal. Most commonly, this condition is caused by an autosomal dominant calcium channel mutation, and patients typically have an established family medical history of hypokalemic periodic paralysis. Read More

View Article and Full-Text PDF
February 2022

Refractory familial hypokalaemic periodic paralysis leading to cardiovascular compromise.

BMJ Case Rep 2022 Feb 7;15(2). Epub 2022 Feb 7.

Internal Medicine, Hurley Medical Center, Flint, Michigan, USA.

Familial hypokalaemic periodic paralysis (FHPP) is a rare neuromuscular disorder that is classified under periodic paralysis (PP), which is characterised by episodes of muscle weakness. Common triggers include intense exercise, fasting or consumption of carbohydrate-rich meals. Hypokalaemic PP has an incidence of 1 in 100 000; despite the temporal association, cardiac manifestations are exceedingly rare. Read More

View Article and Full-Text PDF
February 2022

Periodic quadriplegia during the acute postoperative phase of cervical laminoplasty: a case report and literature review.

Acta Neurochir (Wien) 2022 05 6;164(5):1229-1232. Epub 2022 Feb 6.

Department of Orthopedic Surgery, Osaka Medical and Pharmaceutical University, Takatsuki, Osaka, Japan.

The use of antibiotics can, in rare cases, induce neuromuscular blockade (NMB), resulting in paralytic symptoms. Although such antibiotic-induced NMB has been described in the anaesthesiology and infectious disease literature, it is an unfamiliar clinical entity in the fields of neurosurgery and spinal surgery. Herein, we report a case of periodic quadriplegia due to NMB induced by perioperative prophylactic antibiotic of cefazolin, resulting in highly confusing paralytic symptoms during the acute postoperative phase of cervical laminoplasty, together with a review of the relevant literature. Read More

View Article and Full-Text PDF