PreprintCase ReportVersion 1This version is not peer-reviewed
Synergistic Effects of Incobotulinum Toxin and Physiotherapy in a Rare Case of Paraparesis in a 7-Years-Old Affected by Klippel-Feil Syndrome Related to MYH3 Gene Mutation: A Case Report
Version 1
: Received: 9 September 2024 / Approved: 10 September 2024 / Online: 10 September 2024 (15:20:54 CEST)
How to cite:
Ranieri, M.; Riccardi, M.; Raele, M. V.; Farì, G.; Megna, M.; Marvulli, R. Synergistic Effects of Incobotulinum Toxin and Physiotherapy in a Rare Case of Paraparesis in a 7-Years-Old Affected by Klippel-Feil Syndrome Related to MYH3 Gene Mutation: A Case Report. Preprints2024, 2024090766. https://doi.org/10.20944/preprints202409.0766.v1
Ranieri, M.; Riccardi, M.; Raele, M. V.; Farì, G.; Megna, M.; Marvulli, R. Synergistic Effects of Incobotulinum Toxin and Physiotherapy in a Rare Case of Paraparesis in a 7-Years-Old Affected by Klippel-Feil Syndrome Related to MYH3 Gene Mutation: A Case Report. Preprints 2024, 2024090766. https://doi.org/10.20944/preprints202409.0766.v1
Ranieri, M.; Riccardi, M.; Raele, M. V.; Farì, G.; Megna, M.; Marvulli, R. Synergistic Effects of Incobotulinum Toxin and Physiotherapy in a Rare Case of Paraparesis in a 7-Years-Old Affected by Klippel-Feil Syndrome Related to MYH3 Gene Mutation: A Case Report. Preprints2024, 2024090766. https://doi.org/10.20944/preprints202409.0766.v1
APA Style
Ranieri, M., Riccardi, M., Raele, M. V., Farì, G., Megna, M., & Marvulli, R. (2024). Synergistic Effects of Incobotulinum Toxin and Physiotherapy in a Rare Case of Paraparesis in a 7-Years-Old Affected by Klippel-Feil Syndrome Related to MYH3 Gene Mutation: A Case Report. Preprints. https://doi.org/10.20944/preprints202409.0766.v1
Chicago/Turabian Style
Ranieri, M., Marisa Megna and Riccardo Marvulli. 2024 "Synergistic Effects of Incobotulinum Toxin and Physiotherapy in a Rare Case of Paraparesis in a 7-Years-Old Affected by Klippel-Feil Syndrome Related to MYH3 Gene Mutation: A Case Report" Preprints. https://doi.org/10.20944/preprints202409.0766.v1
Abstract
Klippel-Feil disease is a condition characterized by a defect in the spine, consisting in the fusion or non-separation of two or more vertebrae of the cervical tract. It usually affects 1 every 50.000 newborns, and the pathogenesis remains unknown to date, although the role of certain genes deputed in segmentation processes is being studied. A single case of gene Myosin Heavy Chain 3 (MYH3) mutation is described by researchers. Affected patients are often characterized by a relatively short neck and, therefore, poor mobility, a low hairline and obesity and may have other health problems of different nature. The frequent presence of comorbidities worsens the quality of life of these young patients. The following case describes the synergistic effect of Incobotulinum toxin type A and physiotherapy in a small patient with MYH3 mutation-related Klippel-Feil Syndrome (KFS) complicated by bilateral paraplegia, to improve the spasticity condition of the lower limbs. To assess improvements over time, the patient underwent rating scales to determine spasticity (Modified Ashworth Scale: MAS), the neck’s range of motion (ROM), and muscle tone by using MyotonProÒ. Specifically, measurements were taken on the day of the first medical examination (T0), the month after the injection and the startup of therapeutic exercise (T1), at three months (T2), and then once a month for a total of 6 months (T3, T4 and T5). This therapeutic approach led to entirely satisfactory results with the child’s well-being, prolonged until the sixth month and with a total absence of any side effects.
Keywords
Klippel-Feil Syndrome; Myosin Heavy Chain 3 mutation; MYH3 mutation; spine defects; spasticity; botulinum toxin type A; incobotulinum; therapeutic exercise; physiotherapy
Subject
Medicine and Pharmacology, Neuroscience and Neurology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
