The paper is concerned with disorders of the autonomic nervous system (ANS) in Charcot-Marie amyotrophy. 32 patients were examined. Of these, 21 suffered from the demyelinizing type of the disease and 11 from the axonal one. The status of the peripheral part of the ANS was estimated in the cardiovascular and in the respiration systems as well as in the system of pupil innervation. The patients were distributed into groups with the above-mentioned disease types on the basis of the electroneuromyography data. The relationship was demonstrated between the intensity of vegetative disorders and the genetically determined type of nerve fiber injury--myelinopathy and axonopathy. In the axonal form of Charcot-Marie amyotrophy, the involvement of vegetative fibers into the pathological process was appreciably higher than in the demyelinizing type.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Favorable response to ketogenic diet therapy in a patient with -related epilepsy.
Epilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
View Article and Find Full Text PDFNovel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.
Brain Dev
December 2024
Department of Medical Genetics Medical Faculty, Aksaray University, Aksaray, Turkiye.
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.
View Article and Find Full Text PDFElectrical impedance myography detects progressive pathological alterations in the hindlimb muscle of the PMP22-C3 mice, an animal model of CMT1A.
Exp Neurol
December 2024
Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Research, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-chome, Fujisawa, Kanagawa 251-8555, Japan. Electronic address:
Article Synopsis
- Charcot-Marie-Tooth type 1A (CMT1A) is a common inherited disorder that leads to muscle weakness primarily in the lower limbs, impacting patients' quality of life.
- Current methods for assessing muscle condition have limitations, prompting research into electrical impedance myography (EIM) as a noninvasive tool to evaluate muscle state and track disease progression in CMT1A.
- Studies on PMP22-C3 mice show that EIM can detect changes in muscle condition over time, making it a potential biomarker for monitoring the progression of CMT1A.
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.
Hereditary Neuromuscular Disorders in Reproductive Medicine.
Genes (Basel)
October 2024
Unit of Medical Genetics and Genomics, San Bortolo Hospital, ULSS n.8 "Berica", 36100 Vicenza, Italy.
Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients' quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot-Marie-Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb-Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn.
View Article and Find Full Text PDFWant 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!