Spasticity is a common manifestation of many neurological conditions including multiple sclerosis, stroke, cerebral palsy, traumatic brain injury, and spinal cord injuries. Management of spasticity seeks to reduce its burden on patients and to limit secondary complications. Non-operative interventions including stretching/splinting, postural management, physical therapy/strengthening, anti-spasticity medications, and botulinum toxin injections may help patients with spasticity. Surgical management of these conditions, however, is often necessary to improve quality of life and prevent complications. Orthopaedic surgeons manage numerous sequelae of spasticity, including joint contractures, hip dislocations, scoliosis, and deformed extremities. When combined with the efforts of rehabilitation specialists, neurologists, and physical/occupational therapists, the orthopaedic management of spasticity can help patients maintain and regain function and independence as well as reduce the risk of long-tem complications.
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Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFCureus
December 2024
Physical Medicine and Rehabilitation, All India Institute of Medical Sciences, New Delhi, New Delhi, IND.
Cerebral palsy (CP) is a group of neurological disorders that affect movement, muscle tone, and motor skills. Here, we present a case of an 11-year-old female patient who presented with tightness in both lower limbs, since birth, and delayed walking, accompanied by difficulty walking due to spasticity. She was diagnosed with spastic diplegic cerebral palsy.
View Article and Find Full Text PDFJ Hand Surg Am
January 2025
Division of Hand Surgery, Department of Orthopedic Surgery, Mayo Clinic, Rochester, MN; Department of Orthopedic Surgery, Clinical Investigation Facility, Travis Air Force Base, CA. Electronic address:
Purpose: The benefits of upper-extremity reconstructive surgery for patients with spastic deformities are well documented, but a small portion of eligible patients undergo surgery. We sought to determine perceptions of upper-extremity reconstructive surgery among brain injury patients and nonsurgical providers to identify potential barriers to surgical evaluation.
Methods: Electronic medical records at a referral center were reviewed for patients diagnosed with upper limb spasticity following brain injury.
Toxins (Basel)
December 2024
Spasticity and Movement Disorders "ReSTaRt", Physical Medicine and Rehabilitation Section, Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.
(1) Background: Telemedicine is a vital tool for enhancing healthcare accessibility and outcomes at reduced costs. This study aimed to assess the usability of the Maia Connected Care telemedicine platform for managing spasticity in patients receiving botulinum toxin type-A, focusing on the perspectives of Italian physiatrists with expertise in this treatment. (2) Methods: Conducted from March 2023 to June 2023, this multicenter survey involved 15 Italian physicians who used the platform for teleconsultations.
View Article and Find Full Text PDFToxins (Basel)
November 2024
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Botulinum toxin type A1 is a first-line treatment for adult and pediatric spasticity. However, when considering the quantity of 150 kDa neurotoxin protein in relation to patient weight and the maximum recommended dose for treating adult and pediatric patients with spasticity, several concerns arise. First, the therapeutic margin (the ratio of the actual maximum quantity of toxin recommended for treating adult spasticity to its median lethal dose) appears to be relevant.
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