The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. The increasing interest in neuroimmunology among pediatric neurologists has led to more sophisticated diagnostic and therapeutic approaches. Treatment protocols for complex regional pain syndrome have become more standardized. In addition, investigations continue into potential new interventions for metabolic muscle diseases such as McArdle disease and carnitine palmitoyl transferase deficiency type II. In the years to come, children with pain of neuromuscular origin will have access to more precise diagnostic tools and novel therapies that would alleviate this particularly distressing category of disease.
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http://dx.doi.org/10.1016/j.spen.2016.10.008 | DOI Listing |
J Physiol
January 2025
Institute of Sports Medicine Copenhagen, Department of Orthopaedic Surgery, Copenhagen University Hospital - Bispebjerg and Frederiksberg, Copenhagen, Denmark.
Short-term disuse leads to rapid declines in muscle mass and strength. These declines are driven by changes at all levels of the neuromuscular system; the brain, spinal cord and skeletal muscle. In addition to neural input from the central and peripheral nervous systems to the muscle, molecular factors originating in the muscle can be transported to the central nervous system.
View Article and Find Full Text PDFEur Heart J Case Rep
January 2025
Department of Internal Medicine and Cardiology, Faculty of Medicine, University Hospital Ostrava, University of Ostrava, 17. listopadu 1790, 708 52 Ostrava, Czech Republic.
Background: Charcot-Marie-Tooth is the most common inherited neuromuscular disorder. Rarely, it can be associated with heart failure and various arrhythmic disturbances. This case illustrates the challenges of making decisions to prevent sudden cardiac death in a patient with Charcot-Marie-Tooth disease.
View Article and Find Full Text PDFImmunity
December 2024
Department of Immunology, Harvard Medical School, Boston, MA, USA. Electronic address:
Thymic mimetic cells are molecular hybrids between medullary-thymic-epithelial cells (mTECs) and diverse peripheral cell types. They are involved in eliminating autoreactive T cells and can perform supplementary functions reflective of their peripheral-cell counterparts. Current knowledge about mimetic cells derives largely from mouse models.
View Article and Find Full Text PDFToxins (Basel)
November 2024
Institut des Neurosciences Paris-Saclay, UMR 9197, CNRS/Université Paris-Sud, 91198 Gif-sur-Yvette, Cedex, France.
Botulinum neurotoxin type-A (BoNT/A), which blocks quantal acetylcholine (ACh) release at the neuromuscular junction (NMJ), has demonstrated its efficacy in the symptomatic treatment of blepharospasm. In 3.89% of patients treated for blepharospasm at Tenon Hospital, BoNT/A was no longer effective in relieving the patient's symptoms, and a partial upper myectomy of the muscle was performed.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
Biallelic variants in GLDN have recently been associated with lethal congenital contracture syndrome 11 (LCCS11), a form of fetal akinesia deformation sequence (FADS) with high neonatal mortality. In this report, we describe five individuals from two Canadian Inuit families originating from different communities in Nunavik all affected with FADS and harboring a rare homozygous missense variant, [NM_181789.4:c.
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