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[Physical medical rehabilitation of patients with dystrophinopathies: dynamics of the disease's course considering clinical anthropometric indicators].
Vopr Kurortol Fizioter Lech Fiz Kult
December 2024
Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russia.
Unlabelled: Dystrophinopathies - a group of hereditary X-linked neuromuscular diseases characterized by worsening fibrofatty degeneration of skeletal muscles, muscular weakness, low exercise tolerance, as well as orthopedic, cardiovascular and respiratory complications. Study of the effectiveness of physical medical rehabilitation in patients with neuromuscular diseases, evaluation of the influence of external and internal factors on functional capabilities and effectiveness of the conducted rehabilitation are highly relevant.
Objective: To evaluate the effectiveness of physical medical rehabilitation of patients with dystrophinopathies at the outpatient stages of the disease's course and the influence of anthropometric characteristics and functional status of patients' motor capabilities.
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 PDFOptical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy.
Ann Clin Transl Neurol
November 2024
Department of Neurology, Shenzhen Children's Hospital, No. 7019 Yitian Road, Futian District, Shenzhen, 518038, Guangdong, PR China.
Objective: Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS). We used the optical genome mapping (OGM) technology to detect and analyze uncommon mutations or structural variations (SVs) within the DMD gene, thus contributing to more precise clinical diagnoses.
Methods: We herein included eight patients with dystrophinopathy (six males and two females) in whom pathogenic variants of the DMD gene could not be accurately identified using MLPA and NGS.
The BELS questionnaire: A novel screening tool for neurodevelopmental and psychiatric symptoms in pediatric dystrophinopathy.
Muscle Nerve
February 2025
Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA.
Article Synopsis
- Pediatric patients with dystrophinopathies often experience a range of neurodevelopmental and neuropsychiatric issues, prompting a study to evaluate a new screening tool (BELS) for identifying these challenges.
- 45 caregivers of BDMD patients completed the BELS questionnaire, alongside other established assessments, revealing high rates of behavioral, emotional, learning, and social concerns, as well as significant instances of passive suicidality.
- The BELS questionnaire showed strong correlations with other validated tools and could help in recognizing symptoms that need further attention, ultimately aiming to enhance clinical care and improve patients' quality of life.
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.
Neurogenetics
November 2024
Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.
Pregestational population screening of healthy females for copy number variants in DMD gene has raised numerous challenges regarding the interpretation and disclosure of these findings. Our objective was to analyze data from a local dystrophinopathy patient database, in comparison to population screening results. Utilizing the "Little steps" association registry for children with dystrophinopathy, we classified genetic findings (out-of-frame, in-frame, or difficult-to-predict) in 231 DMD and 90 BMD male patients.
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