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Introduction: COQ4 mutation often leads to a fatal multi-system disease in infants. Recently, it was reported that the biallelic COQ4 variants may be a potential cause of hereditary spastic paraplegia (HSP). This study aims to describe the clinical features and genotype of the COQ4 associated hereditary spastic paraplegia (HSP).
View Article and Find Full Text PDFParaplegia Caused by a Large Spinal Epidural Hematoma 12 Days After Thoracic Decompression and Fusion.
Cureus
December 2024
Orthopaedic Surgery, Kyushu Central Hospital of the Mutual Aid Association of Public School Teachers, Fukuoka, JPN.
A 41-year-old man with a history of obesity, hypertension, and smoking suffered from numbness and weakness in both lower limbs. He was diagnosed with ossification of the posterior longitudinal ligament and ligamentum flavum in the cervical and thoracic spine by X-rays, CT, and MRI. The patient underwent laminectomies at T2 and T3 levels, along with posterior fusion from T1 to T4, to address an upper thoracic spine lesion causing sensory deficits up to T5 and gait disturbances.
View Article and Find Full Text PDFSpinal Cord Injury Following Venoarterial Extracorporeal Membrane Oxygenation: A Scoping Review.
J Cardiothorac Vasc Anesth
November 2024
Indiana University School of Medicine, Department of Internal Medicine, Indianapolis, IN. Electronic address:
Article Synopsis
- Spinal cord infarction (SCI) is a serious but uncommon complication that can occur in patients on venoarterial extracorporeal membrane oxygenation (VA ECMO), which is used for treating cardiogenic shock.
- A review of literature and new cases showed that out of 30 adults studied, most experienced paraplegia or weakness in the lower limbs, with MRI confirming spinal damage in nearly all cases.
- Currently, there is no effective treatment for SCI in these patients, emphasizing the importance of prevention strategies that require further investigation.
Update on Inherited Pediatric Motor Neuron Diseases: Clinical Features and Outcome.
Genes (Basel)
October 2024
Associazione "La Nostra Famiglia", IRCCS "E. Medea", Scientific Hospital for Neurorehabilitation, Unit for Severe Disabilities in Developmental Age and Young Adults, Developmental Neurology and Neurorehabilitation, 72100 Brindisi, Italy.
Background: Inherited pediatric motor neuron diseases (MNDs) are a group of neurodegenerative disorders characterized by the degeneration of motor neurons in the brain and the spinal cord. These diseases can manifest as early as infancy and originate from inherited pathogenic mutations in known genes. Key clinical features of MNDs include muscle weakness, hypotonia, and atrophy due to the degeneration of lower motor neurons or spasticity, hypertonia, and hyperreflexia caused by upper motor neuron dysfunction.
View Article and Find Full Text PDFDeterminants of Between-Person Variation in Shoulder Pain in Individuals With Spinal Cord Injury: A Population-Based Cohort Study.
Am J Phys Med Rehabil
November 2024
From the Neuro-musculoskeletal Functioning and Mobility Group, Swiss Paraplegic Research, Nottwil, Switzerland (FMB, UM, UA); Institute for Biomechanics, Department of Health Sciences and Technology, ETH Zurich, Zurich, Switzerland (FMB); Life Course Epidemiology Group, Swiss Paraplegic Research, Nottwil, Switzerland (MWGB); Swiss Paraplegic Centre, Nottwil, Switzerland (IE-H); Faculty of Health Science and Medicine, University Lucerne, Lucerne, Switzerland (IE-H, UM, MWGB); and Spinal Cord Injury Center, Balgrist University Hospital, Zurich, Switzerland (MS).
Article Synopsis
- The study evaluated factors affecting shoulder pain among individuals with spinal cord injury in Switzerland, using data from surveys conducted in 2012, 2017, and 2022.
- The analysis found that 34.4% of respondents reported shoulder pain, with females, individuals with spasticity or contractures, those experiencing depression, and those with incomplete tetraplegia being at higher risk.
- Overall, findings highlight the importance of gender, injury severity, time since injury, health conditions, and wheelchair use as key determinants of shoulder pain variability among affected individuals.
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