دورية أكاديمية
أعرض في EDS

Diaphragm weakness in late-onset Pompe disease: A complex interplay between lower motor neuron and muscle fibre degeneration.

التفاصيل البيبلوغرافية
العنوان: Diaphragm weakness in late-onset Pompe disease: A complex interplay between lower motor neuron and muscle fibre degeneration.
المؤلفون: Oliveira Santos M; Institute of Physiology, Instituto de Medicina Molecular João Lobo Antunes, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal. Electronic address: migueloliveirasantos@hotmail.com., Domingues S; Department of Physical Medicine and Rehabilitation, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., de Campos CF; Institute of Physiology, Instituto de Medicina Molecular João Lobo Antunes, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Moreira S; Thoracic Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., de Carvalho M; Institute of Physiology, Instituto de Medicina Molecular João Lobo Antunes, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
المصدر: Journal of the neurological sciences [J Neurol Sci] 2024 May 15; Vol. 460, pp. 123021. Date of Electronic Publication: 2024 Apr 18.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Amsterdam : Elsevier, <19 ->
مواضيع طبية MeSH: Glycogen Storage Disease Type II*/complications , Glycogen Storage Disease Type II*/physiopathology , Diaphragm*/physiopathology , Muscle Weakness*/etiology , Muscle Weakness*/physiopathology , Phrenic Nerve*/physiopathology , Motor Neurons*/physiology , Motor Neurons*/pathology , Electromyography*, Humans ; Male ; Female ; Middle Aged ; Adult ; Neural Conduction/physiology ; Muscle Fibers, Skeletal/pathology ; Muscle Fibers, Skeletal/physiology ; Aged ; Respiratory Insufficiency/etiology ; Respiratory Insufficiency/physiopathology ; Prospective Studies ; Action Potentials/physiology
مستخلص: Background: Late-onset Pompe disease (LOPD) patients may still need ventilation support at some point of their disease course, despite regular recombinant human alglucosidase alfa treatment. This suggest that other pathophysiological mechanisms than muscle fibre lesion can contribute to the respiratory failure process. We investigate through neurophysiology whether spinal phrenic motor neuron dysfunction could contribute to diaphragm weakness in LOPD patients.
Material and Methods: A group of symptomatic LOPD patients were prospectively studied in our centre from January 2022 to April 2023. We collected both demographic and clinical data, as well as neurophysiological parameters. Phrenic nerve conduction studies and needle EMG sampling of the diaphragm were perfomed.
Results: Eight treated LOPD patients (3 males, 37.5%) were investigated. Three patients (37.5%) with no respiratory involvement had normal phrenic nerve motor responses [median phrenic compound muscle action potential (CMAP) amplitude of 0.49 mV; 1st-3rd interquartile range (IQR), 0.48-0.65]. Those with respiratory failure (under nocturnal non-invasive ventilation) had abnormal phrenic nerve motor responses (median phrenic CMAP amplitude of 0 mV; 1st-3rd IQR, 0-0.15), and were then investigated with EMG. Diaphragm needle EMG revealed both myopathic and neurogenic changes in 3 (60%) and myopathic potentials in 1 patient. In the last one, no motor unit potentials could be recruited.
Conclusions: Our study provide new insights regarding respiratory mechanisms in LOPD, suggesting a contribution of spinal phrenic motor neuron dysfunction for diaphragm weakness. If confirmed in further studies, our results recommend the need of new drugs crossing the blood-brain barrier.
Competing Interests: Declaration of competing interest Miguel Oliveira Santos and Mamede de Carvalho received support from Sanofi. The other authors declare no conflict of interest.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
فهرسة مساهمة: Keywords: Alglucosidase alfa; Diaphragm weakness; Late-onset Pompe disease; Muscle fibre; Respiratory failure; Spinal phrenic motor neuron
تواريخ الأحداث: Date Created: 20240423 Date Completed: 20240510 Latest Revision: 20240510
رمز التحديث: 20240511
DOI: 10.1016/j.jns.2024.123021
PMID: 38653115
قاعدة البيانات: MEDLINE
الوصف
تدمد:1878-5883
DOI:10.1016/j.jns.2024.123021