Dilated cardiomyopathy, hypertrophic cardiomyopathy, and cardiac rhythm disturbances are important features of certain neuromuscular disorders in children, adolescents, and young adults. This article summarizes the cardiac features seen in patients with Duchenne muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy, Friedreich's ataxia, and Emery-Dreifuss muscular dystrophy. The optimal management of these cardiac features remains contentious, but increasingly these patients are referred for routine cardiological assessment in the absence of symptoms. This article examines the value of routine screening and drug interventions for cardiac complications in asymptomatic and symptomatic individuals with neuromuscular disorders. We recommend a pragmatic approach, actively looking for cardiac conditions which will benefit from early intervention, but avoiding routine screening for asymptomatic conditions in which there is no evidence of benefit from early intervention.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1017/S0012162206000491 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Ketamine Infusion for Complex Regional Pain Syndrome Treatment: A Narrative Review.
Curr Pain Headache Rep
January 2025
Department of Anesthesiology, Louisiana State University Health Sciences Center at Shreveport, Shreveport, LA, 71103, USA.
Purpose Of Review: Complex Regional Pain Syndrome (CRPS) is a neuropathic pain disorder characterized by pain disproportionate to the inciting event that is constant for an extended duration. Numerous treatment options for this condition have been explored with unsatisfactory results in many cases. Ketamine, an N-methyl-D-aspartate (NMDA) receptor antagonist typically used as an anesthetic and analgesic, presents a promising potential treatment for CRPS in patients who fail to respond to traditional therapies.
View Article and Find Full Text PDFRisk factors of disease severity and mechanical ventilation requirement in childhood Guillain-Barré Syndrome.
Turk J Pediatr
December 2024
Department of Pediatric Neurology, Faculty of Medicine, İnönü University, Malatya, Türkiye.
Background: This study aimed to investigate the risk factors associated with the severity of the disease, the need for mechanical ventilation (MV) and poor prognosis in the early stages of Guillain-Barré Syndrome (GBS).
Methods: Data of children who met GBS diagnostic criteria were evaluated retrospectively. The sample was divided into three binary subgroups according to severe GBS (Hughes Functional Grading Scale [HFGS] ≥ 4 at admission), mechanical ventilation (MV) requirement, and poor prognosis (inability to walk independently, HFGS ≥ 3 after six months).
Anti-SRP myositis: a diagnostic and therapeutic challenge.
Turk J Pediatr
December 2024
Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Türkiye.
Background: Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to increase the awareness of pediatricians about idiopathic inflammatory myopathies.
Case Presentation: A previously healthy 3-year-old girl presented with progressive symmetrical proximal muscle weakness that caused difficulty in climbing stairs for two months prior to evaluation, and a marked elevation of the serum creatine kinase levels.
Introduction: Living with a chronic disease impacts many aspects of life, including the ability to participate in activities that enable interactions with others in society, that is, social participation (SP). Despite efforts to monitor the quality of care and life of chronically ill people in Belgium, no disease-specific patient-reported measures (PRMs) have been used. These tools are essential to understand SP and to develop evidence-based recommendations to support its improvement.
View Article and Find Full Text PDFEpidemiology, management and patient needs in myasthenia gravis: an Italian multistakeholder consensus based on Delphi methodology.
BMJ Open
December 2024
Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
Objectives: To provide comprehensive information on the burden of myasthenia gravis (MG) in Italy, including the unmet needs of patients and several other aspects related to the disease, based on skilled viewpoints of MG experts.
Design: Iterative analysis conducted in accordance with the best practices of the Delphi method, including anonymity, controlled feedback, and statistical stability of consensus.
Setting And Participants: 24 clinicians, 18 public health experts and 4 patient associations experts completed all the Delphi iterations between 18 April and 3 July 2023, for a total of 46 participants from several Italian Regions.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!