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http://dx.doi.org/10.1001/jamapediatrics.2024.0030 | DOI Listing |
Asian Pac Isl Nurs J
January 2025
Nursing Care Research Center, Clinical Sciences Institute, Nursing Faculty, Baqiyatallah University of Medical Sciences, Vanak Square, Tehran, Iran, 98 9127297199.
Background: Neuromuscular disorders (NMDs) constitute a heterogeneous group of disorders that affect motor neurons, neuromuscular junctions, and muscle fibers, resulting in symptoms such as muscle weakness, fatigue, and reduced mobility. These conditions significantly affect patients' quality of life and impose a substantial burden on caregivers. Spinal muscular atrophy (SMA) is a relatively common NMD in children that presents in various types with varying degrees of severity.
View Article and Find Full Text PDFAmyotroph Lateral Scler Frontotemporal Degener
January 2025
2nd Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Attikon University Hospital, Athens, Greece.
Motor Neuron Diseases (MNDs), familial and sporadic, are progressive neurodegenerative disorders that, for an extended period in the past, were considered purely motor disorders. During the course of the disease, however, some patients exhibit concomitant non-motor signs; thus, MNDs are currently perceived as multisystem disorders. Assessment of non-motor symptoms is usually performed clinically, although laboratory tests can also be routinely used to objectively evaluate these symptoms.
View Article and Find Full Text PDFPhys Ther Res
October 2024
Department of Physical Therapy, Faculty of Health and Medical Care, Saitama Medical University, Japan.
Objective: In this study, we aimed to determine the effects of 2-week neuromuscular electrical stimulation (NMES) on quadriceps muscle atrophy and lower extremity motor score in individuals with subacute incomplete cervical spinal cord injury (SCI).
Methods: This stratified randomized controlled trial, conducted in the advanced critical care center of a university hospital, comprised 49 individuals with American Spinal Injury Association (ASIA) impairment scale grade C and D incomplete cervical SCI. The participants were stratified based on the ASIA impairment scale grade and randomly assigned to the control (n = 25) or NMES (n = 24) group.
Neuromuscul Disord
December 2024
Pharma Personalized Healthcare, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
The severity of spinal muscular atrophy (SMA) is inversely correlated with the number of survival of motor neuron 2 (SMN2) copies an individual has. This observational, retrospective analysis of natural history data included untreated individuals with a genetic diagnosis of types 1-3 SMA and stratified disease-related characteristics by SMN2 copy number. The outcomes investigated were time to: death, permanent ventilation, respiratory support, feeding support, scoliosis surgery, and achievement and loss of motor milestones.
View Article and Find Full Text PDFBiomedicines
January 2025
Departments of Neurosurgery, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, No. 707, Sec. 3, Zhongyang Rd., Hualien City 970, Hualien County, Taiwan.
: To determine whether epidural electrical stimulation (EES) improves sensory recovery and walking function in patients with chronic spinal cord injury (SCI) with a grade on the American Spinal Cord Injury Association impairment scale (AIS) of C or D at the cervical level. : Three individuals with cervical-level chronic AIS D SCI were enrolled in the study. The mean injury duration and age were 4.
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