Dystrophic myotonia is a widespread hereditary disease. Pathological process touches development and functioning of various organs and tissues: smooth and skeletal muscular tissue, the heart, organ of vision, brain. Pathology of the heart serves as one of frequent manyfestations of dystrophic myotonia. Degenerative changes and fatty infiltration of myocardium not infrequently leads to dilated cardiomyopathy. Involvement of the heart in such patients is represented mainly by disturbance of cardiac rhythm and conduction. Course of the disease is progressive.
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Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey).
Arch Pediatr
January 2025
CMR Neuromusculaire, Service de génétique médicale, Hôpital Estaing, CHU de Clermont-Ferrand, Clermont-Ferrand, France. Electronic address:
Background: Myotonia is the main feature of both myotonic dystrophy (DM) and non-dystrophic myotonia (NDM). It is felt as stiffness, pain, fatigue, and weakness. In France, mexiletine, a non-selective voltage-gated sodium channel blocker, is approved for the treatment of myotonia in adults with NDM, and it has a temporary recommendation for use in the symptomatic treatment of DM in adults.
View Article and Find Full Text PDFMyotonia Congenita in Australian Merino Sheep with a Missense Variant in .
Animals (Basel)
December 2024
Sydney School of Veterinary Science, The University of Sydney, Camden, NSW 2570, Australia.
Myotonia congenita is a hereditary, non-dystrophic skeletal muscle disorder associated with muscle stiffness due to delayed muscle relaxation after contraction. We review myotonia congenita in domesticated animals and humans and investigated suspected myotonia congenita in a flock of Merino sheep in Australia. In 2020, a property in New South Wales reported a four-year history of lambs that would fall on disturbance before rapidly recovering, with 13 affected sheep identified in 2020.
View Article and Find Full Text PDF[Breathing disorders during sleep in patients with dystrophic myotonia].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus.
Objective: To analyze the results of nocturnal breathing parameters during sleep based on nocturnal pulse oximetry and to study of characteristics of external respiration in genetically confirmed patients with dystrophic myotonia (DM).
Material And Methods: The subjects of the study were patients with genetically confirmed DM types 1 and 2 who were hospitalized in the neurological departments of the Republican Scientific and Practical Center for Neurology and Neurosurgery. The clinical picture of the disease, comorbidities, sleep questionnaires, laboratory tests, overnight pulse oximetry and spirometry were performed and analyzed.
Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of and Variants: A Case Report.
Neurol Genet
February 2025
Department of Neurology and.
Objectives: To report a case of adult-onset non-dystrophic myotonia complicated by recurrent episodes of laryngospasm.
Methods: The patient is a 35-year-old man who was admitted to our hospital for recurrent episodes of apnea requiring endotracheal intubation with mechanical ventilation. He underwent extensive evaluation, including EMG, laryngoscopy, muscle biopsy, and genetic testing, which revealed a diagnosis of non-dystrophic myotonia.
Maternal health and obstetric complications of genetic neuromuscular disorders in pregnancy: A systematic review.
Eur J Obstet Gynecol Reprod Biol
January 2025
Andhra Medical College, Vishakapatnam, Andhra Pradesh, India.
Article Synopsis
- Genetic neuromuscular disorders significantly impact muscle function and present challenges during pregnancy, necessitating a review of related obstetric outcomes.
- A systematic analysis of 28 studies revealed common complications such as polyhydramnios, preterm labor, and increased rates of cesarean sections among pregnant women with disorders like myotonic dystrophy and spinal muscular atrophy.
- Effective management of these high-risk pregnancies requires collaboration between neurologists and obstetricians, alongside further research to establish standardized care protocols.
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