Fifty-four patients with spinal muscular atrophy were examined and HLA typing performed on blood from each. A, B and DR antigens were determined. No statistical difference in antigen prevalence was found between patients and a control population. The clinical and genetic heterogeneity found in this disorder does not appear to be related to HLA status.
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Phys 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.
View Article and Find Full Text PDFHealthcare (Basel)
January 2025
Department of Pharmacy Administration and Clinical Pharmacy, School of Pharmacy, Xi'an Jiaotong University, 76 Yanta West Road, Xi'an 710061, China.
Spinal muscular atrophy is a rare genetic disease. Nusinersen and Risdiplam, recognized as disease-modifying therapies, were included in the National Reimbursement Drug List in 2022 and 2023, respectively, in China. Policies have been implemented to enhance a multi-level medical security system, particularly for rare diseases.
View Article and Find Full Text PDFJ Neurodev Disord
January 2025
Department of Radiology, The First Affiliated Hospital of Sun Yat-sen University, No 58 Zhongshan 2nd Road, Guangzhou, 510080, China.
Background: Spinal muscular atrophy (SMA) is caused by reduced expression of survival motor neuron (SMN) protein. Previous studies indicated SMA causes not only lower motor neuron degeneration but also extensive brain involvement. This study aimed to investigate the changes of brain white matter and structural network using diffusion tensor imaging (DTI) in children with type 2 and 3 SMA.
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