: This study aimed to determine the positive predictive value of our NMD Suspicion Criteria in the diagnosis of NMDs. Other clinical factors routinely examined in our voice and swallowing examinations were also investigated to see if they had a significant association with the diagnosis of NMDs. : This study retrospectively investigated the medical charts of patients who visited our Voice and Swallowing outpatient clinic between 2013 and 2022. Patients with previously diagnosed NMDs were excluded from the analysis. Among the remaining patients, we included those that were referred to neurologists for further evaluation due to suspicion of having an NMD based on the NMD Suspicion Criteria. The patients were then divided into groups according to the status of their diagnosis within 2 years of referral as "diagnosed", "denied", or "observed". These three groups of patients were then compared according to the following clinical findings; velopharyngeal insufficiency (VPI), tongue atrophy, impaired tongue movement, dysarthria, vocal fold mobility impairment, dysphagia, involuntary movement, gait disturbances, weight loss, and a sense of fatigue in order to see if they were significantly associated with the diagnosis of NMDs. : Of 3769 outpatients without a confirmed diagnosis of NMDs, 37 were referred to neurologists for suspected NMDs, and 19 (51%) were diagnosed with NMDs. VPI and impaired tongue movement were significant diagnostic factors for NMDs ( = 0.014, 0.033). VPI during speech ( = 0.045) was more strongly associated with the diagnosis of NMDs than VPI during swallowing ( = 0.076). Fatigue was a significant related factor for other diseases (non-NMDs) causing Voice and Swallowing problems ( = 0.049). : In the outpatient clinic setting, suspicion of NMD should be raised, particularly when VPI and impaired tongue movement are observed, prompting a thorough assessment of velopharyngeal closure during both speech and swallowing.
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http://dx.doi.org/10.3390/jcm14020477 | DOI Listing |
J Clin Med
January 2025
Department of Otolaryngology, and Head and Neck Surgery, Faculty of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
: This study aimed to determine the positive predictive value of our NMD Suspicion Criteria in the diagnosis of NMDs. Other clinical factors routinely examined in our voice and swallowing examinations were also investigated to see if they had a significant association with the diagnosis of NMDs. : This study retrospectively investigated the medical charts of patients who visited our Voice and Swallowing outpatient clinic between 2013 and 2022.
View Article and Find Full Text PDFChildren (Basel)
November 2024
Department of Neuropediatrics, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário de Santo António (CHUdSA), Largo da Maternidade de Júlio Dinis 45, 4050-651 Porto, Portugal.
Background: Neuromuscular diseases (NMDs) are rare, predominantly hereditary, with progressive course disorders. Furthermore, diagnosis can be delayed by years after symptoms emerge, resulting in missed opportunities for modifying disease progression, specific therapeutic approaches, and counseling. Some NMDs have high levels of creatine phosphokinase (CK).
View Article and Find Full Text PDFRadiographics
January 2025
From the Department of Musculoskeletal Radiology, Fleury Medicina E Saúde Higienópolis, Rua Mato Grosso 306, 1st Floor, Higienópolis, São Paulo, SP 01239-040, Brazil (I.A.N.d.C., M.C.F., L.N.M.d.S., F.F.A., D.V.C.G., M.A.C.N., J.B.G., A.G.O.F.); Department of Radiology, Mayo Clinic, Rochester, Minn (N.G.R.); and Department of Knee Surgery, Instituto Vita Ortopedia e Fisioterapia Higienópolis, São Paulo, Brazil (B.S.).
Shoulder and neck concerns are prevalent musculoskeletal issues prompting medical attention, often stemming from scapulothoracic disorders that can serve as both the cause and consequence of other shoulder abnormalities. Scapular dyskinesis, fractures, benign and malignant masses, and neuropathies are frequently overlooked yet can substantially affect shoulder pain and function, particularly in athletes. Scapulothoracic disorders may lead to and/or be worsened by common shoulder abnormalities including those of the rotator cuff, neighboring bursae, and the glenohumeral articulation and labrum.
View Article and Find Full Text PDFGenes (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 PDFGenomics Inform
November 2024
Department of Pediatrics, Seoul National University Bundang Hospital, 82, Gumi-ro, 173beon-gil, Bundang-gu, Seongnam-si, Gyeonggi-do, 13620, Republic of Korea.
Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. While fewer than 30 NMDs had known genetic causes before the 1990s, more than 600 have now been identified, largely due to the adoption of next-generation sequencing (NGS) technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS).
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