He presented elevated CPK levels at admission (1325 U/mL). [elsevier.es]

On presentation, the patient was tachycardic at 105 beats/minute. [cureus.com]

The presence of the characteristic skeletal abnormalities helps in reinforcing the diagnosis, which highlights the importance of a careful physical examination in all patients presenting with periodic paralysis. [neurologyindia.com]

Bidirectional ventricular tachycardia is the hallmark ventricular arrhythmia, but also premature ventricular contractions, and rarely, polymorphic ventricular tachycardia of torsade de pointes type may be present. [researchportal.vub.be]

Patients with ATS typically present with the triad of periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms. Although penetrance of ATS is high, disease expression and severity are remarkably variable. [doi.org]

• Short Stature

  Some affected people also have short stature and an abnormal curvature of the spine (scoliosis). Two types of Andersen-Tawil syndrome are distinguished by their genetic causes. [rarediseases.oscar.ncsu.edu]

  stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. [orpha.net]

  He was of short stature with height of 150 cm and body weight of 40kg. He had also typical facial features like low set ears, micrognathia and retrognathia. (Figures l and 2). [japi.org]

  Distinctive physical findings include hypertelorism, micrognathia, low-set ears, high-arched or cleft palate, short stature, clinodactyly, syndactyly, and a broad nasal root. [humpath.com]

• Pain

  The muscle phenotype, particularly the atypical forms with prominent permanent weakness or predominantly painful symptoms, remains incompletely characterized. [neurodiem.com.br]

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: December 5, 2022 [patientslikeme.com]

  She reported difficulty walking after waking up, cramping, and pain in the muscles of her neck, back, and calves, and a compelling need to bend her head forward. The pain subsided when she rested and worsened when she resumed exercise after rest. [karger.com]

• Short Finger

  0012745 Short phalanx of finger Short finger bones 0009803 Slender long bone Long bones slender Thin long bones [ more ] 0003100 Small hand Disproportionately small hands 0200055 Syncope Fainting spell 0001279 Toe syndactyly Fused toes Webbed toes [ [rarediseases.info.nih.gov]

  Symptoms Widely spaced eyes ( hypertelorism ) Short stature Scoliosis Webbed toes or fingers Unusual short fingers Low set ears Broad forehead Small jaw Protruding jaw Broad nasal root Clinical signs Prolongation of QT interval Cardiac arrhythmias Weakness [wikidoc.org]

  Symptoms Widely spaced eyes Short stature Scoliosis Webbed toes or fingers Unusual short fingers Low set ears Broad forehead Small jaw Protruding jaw Broad nasal root Eponym It is named for Ellen Andersen[3] and Al-Rabi Tawil.[4][5] This article incorporates [sites.google.com]

• Malaise

  […] présenter de manière isolée ou sous forme d'un syndrome associant plusieurs malformations : Le syndrome de Romano-Ward Le syndrome de Jervell-Lange-Nielsen Le syndrome d’Andersen-Tawil Le syndrome de Timothy Le syndrome peut être découvert à l'occasion d'un malaise [sites.google.com]

• Respiratory Distress

  Here, we report an 18-year-old girl who was presented with life-threatening cardiac arrhythmia and acute respiratory distress. She was diagnosed with ATS, based on dysmorphic features, ventricular arrhythmia, and periodic paralysis. [ir.ymlib.yonsei.ac.kr]

  distress. (7) Consider prophylactic therapy to reduce the risk of hypokalemia. [meducator3.net]

  distress in the recovery room [Siler and Discavage 1975, Melnick et al. 1983, Rollman and Dickson 1985, Lema et al. 1991]. [hkpp.org]

• Common Cold

  Mosser, AG, Rueckert, RR, Sherry, B. and Vriend, G. (1985) Structure of a human common cold virus and functional relationship to other picornaviruses. ‏ [books.google.com]

• Palpitations

  Conclusion Our aim is to educate physicians of such rare clinical entity and its high phenotypic variability while evaluating patients with palpitations and periodic paralysis. [jacc.org]

  An electrocardiogram (ECG) is recorded at rest and during palpitations (Figure 1). [heartrhythmjournal.com]

  Muscle weakness, palpitations and a small chin: the Andersen–Tawil syndrome S Rajakulendran1, S V Tan2, M G Hanna3 1Research Fellow, Institute of Neurology, University College of London, London, UK 2Consultant Neurophysiologist, National Hospital for [pn.bmj.com]

  He also reported intermittent, fast and regular palpitations lasting for seconds to minutes especially during the periods of weakness, not associated with presyncope or syncope. [neurologyindia.com]

  The irregular heartbeats can lead to discomfort, such as the feeling that the heart is skipping beats (palpitations). Uncommonly, the irregular heartbeats can cause fainting (syncope), and even more rarely, sudden death. [ghr.nlm.nih.gov]

• Irregular Heart Rhythm

  The KCNJ2 gene mutation alters potassium channels in such a way that it disrupts the flow of potassium ions in skeletal and heart muscle. This can lead to the characteristic periodic paralysis and irregular heart rhythms. [clinicaltrials.gov]

  These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen-Tawil syndrome. [chemeurope.com]

  These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen–Tawil syndrome. [wikidoc.org]

• Low Set Ears

  These features often include a very small lower jaw (micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and unusual curving of the fingers or toes (clinodactyly). [rarediseases.oscar.ncsu.edu]

  Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ] 0000327 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Low-set ears Low set ears [rarediseases.info.nih.gov]

  […] a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set [orpha.net]

  set ears, micrognathia and broad forehead). [japi.org]

• Small Hand

  […] of finger Short finger bones 0009803 Slender long bone Long bones slender Thin long bones [ more ] 0003100 Small hand Disproportionately small hands 0200055 Syncope Fainting spell 0001279 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Triangular [rarediseases.info.nih.gov]

  hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or 2. [rareguru.com]

  Hypertelorism, small mandible, tooth crowding, and small hands were also observed. Table 1 provides a summary of the clinical characteristics of our patients. Table 1. [frontiersin.org]

  Additional findings include small hands and feet, loose joints, and abnormal sideways curvature of the spine (scoliosis). [rarediseases.org]

• Brachydactyly

  […] the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly [orpha.net]

• Hypertelorism

  […] disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism [orpha.net]

  The patient was found to have bilateral weakness in the upper and lower limbs, orbital hypertelorism, and mandibular hypoplasia. [cureus.com]

  Distinctive physical findings include hypertelorism, micrognathia, low-set ears, high-arched or cleft palate, short stature, clinodactyly, syndactyly, and a broad nasal root. [humpath.com]

To prevent sudden cardiac death, cardiac evaluation with serial ECGs with calculation of corrected QT-intervals (QTc) are essential and should be performed early in all patients undergoing workup for periodic paralysis. [accessanesthesiology.mhmedical.com]

Diagnosis and Treatment The diagnostic workup included a variety of tests: blood tests performed during episodes of paralysis and in between them always showed normal electrolyte levels, including potassium; thyroid hormones, metabolic tests, and creatine [karger.com]

Clinical Testing and Workup Because potassium levels may be reduced during an episode of periodic paralysis, a blood test to determine the serum potassium levels during an episode can be helpful in diagnosing the disorder in some cases. [rarediseases.org]

• Bidirectional Ventricular Ectopy

  Title Other Names: Long QT syndrome 7; LQT7; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features; Long QT syndrome 7; LQT7; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features; Andersen cardiodysrhythmic [rarediseases.info.nih.gov]

• Prominent U Wave

  Pseudo “Tee-pee sign” during a PVC, there is a prolongation of the descending limb of the T+U-wave. In ATS1, the QT interval can appeared prolonged and difficult to quantify because of a prominent U-wave. [wikidoc.org]

  Accounting for the small sample size, prominent U-waves and the “U on P sign” seem to be the most consistent across studies. [innovationsincrm.com]

  Her 7-year-old daughter has episodic muscle weakness, cardiac involvement with premature ventricular contractions and prominent U wave, and distinctive skeletal features while the younger daughter has only skeletal features. [ng.neurology.org]

  ECG was notable for prominent U waves, with sinus rhythm and a normal QT interval. Genetic screening identified a heterozygous mutation in the KCNJ2 gene. The patient returned during an attack for nerve conduction and needle EMG studies. [neurologytimes.com]

Management and treatment Treatment depends on the individual and their reaction to potassium. Patients with severe arrhythmias may require a pacemaker. The documents contained in this web site are presented for information purposes only. [orpha.net]

Therefore, treatment of ATS requires close collaborative efforts between cardiologists and neurologists because a patient's treatment response may be variant-specific. [nmd-journal.com]

Successful cardiac treatment allows survival, while treatment of periodic muscle paralysis contributes to improved daily function and greater independence in these patients. [karger.com]

Studies should include long‐term follow‐up, cost benefits of treatment, effects of treatment on permanent muscle weakness, adverse events, as well as efficacy. [doi.org]

Biology Cardiology in review 2020 The purpose of this review is to present historical aspects, nomenclature, epidemiology, genetics, electrocardiography, arrhythmias, electrophysiological mechanisms, diagnostic criteria/clues of periodic paralysis, prognosis [semanticscholar.org]

The purpose of this review is to present historical aspects, nomenclature (observations/criticisms), epidemiology, genetics, electrocardiography, arrhythmias, electrophysiological mechanisms, diagnostic criteria/clues of periodic paralysis, prognosis, [researchportal.vub.be]

Diagnosis - Andersen Tawil syndrome Prognosis - Andersen Tawil syndrome Not supplied. Treatment - Andersen Tawil syndrome Resources - Andersen Tawil syndrome [checkorphan.org]

Andersen-Tawil syndrome Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Differentiating Andersen-Tawil syndrome from other Diseases Epidemiology and Demographics Screening Natural History, Complications and Prognosis [wikidoc.org]

Summary Etiology Mutations in KCNJ2, which encodes the alpha subunit of the potassium channel Kir2.1, account for approximately 60% of cases. [orpha.net]

This concept has proven valuable for classifying disorders and understanding their etiology. In the case of muscle channelopathies, it has been especially helpful in the understanding of a group of rare disorders that, on the surface, are different. [journals.lww.com]

> ; # Epidemiology schema:about http://experiment.worldcat.org/entity/work/data/1375926537#Thing/internal_medicine > ; # Internal medicine. schema:about http://experiment.worldcat.org/entity/work/data/1375926537#Topic/heart_physiology > ; # Heart--physiology [worldcat.org]

Medicine, Biology Cardiology in review 2020 The purpose of this review is to present historical aspects, nomenclature, epidemiology, genetics, electrocardiography, arrhythmias, electrophysiological mechanisms, diagnostic criteria/clues of periodic paralysis [semanticscholar.org]

The purpose of this review is to present historical aspects, nomenclature (observations/criticisms), epidemiology, genetics, electrocardiography, arrhythmias, electrophysiological mechanisms, diagnostic criteria/clues of periodic paralysis, prognosis, [researchportal.vub.be]

Home, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info EPISODIC MUSCLE WEAKNESS Hypokalemic Periodic Paralysis Hypokalemic periodic paralysis, Hereditary: General features Epidemiology [neuromuscular.wustl.edu]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Hereby, we describe a patient with an already known mutation in the KCNJ2 gene and relatively stable ATS disease that worsened dramatically after developing Graves’ disease, strengthening the pathophysiological link between the Kir 2.1 channel and TPP [nature.com]

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. [cureus.com]

Pathophysiology Other forms of periodic paralysis result from mutations in skeletal muscle-specific Na+-, K+-, and Ca2+-channels. ATS is unique among the channelopathies due to its combination of a skeletal and a cardiac muscle phenotype. [accessanesthesiology.mhmedical.com]

Pathophysiology of ATS The inward rectifier potassium channel protein Kir2.1 is encoded by the KCNJ2 gene, which is mainly expressed in the heart and skeletal muscle tissue. [acroscell.creative-bioarray.com]

[…] mostly inherited as autosomal dominant traits Hypokalaemic periodic paralysis Aetiology & epidemiology - 1/3 cases sporadic - remainder predominantly inherited but in young men, particularly Latin Americans & Orientals may occur in association with TTX Pathophysiology [aic.cuhk.edu.hk]

Many mutations prevent a molecule called PIP2 from binding to the channels and effectively regulating their activity. [chemeurope.com]

Secondary Prevention Tertiary Prevention Cost-Effectiveness of Therapy Future or Investigational Therapies Case Studies Case #1 Andersen-Tawil syndrome electrocardiogram On the Web Most recent articles Most cited articles Review articles CME Programs [wikidoc.org]

The treatment approach should include both management of acute attacks and prevention of attacks. [ncbi.nlm.nih.gov]