Abstract
BACKGROUND: Klippel-Feil disease is a condition characterized by a defect in the spine, consisting of the fusion or non-separation of two or more vertebrae of the cervical tract. It affects 1 in every 50,000 newborns, and the pathogenesis remains unknown to date, although the role of certain genes that are involved in segmentation processes is being studied. A single case of a genetic Myosin Heavy Chain 3 (MYH3) mutation is described here. Affected patients are typically distinguished by a relatively short neck, which leads to limited mobility, a low hairline, and obesity; they may also experience various other health issues. The common occurrence of comorbidities further diminishes the quality of life of these young individuals. METHODS: The following case report describes the synergistic effect of Incobotulinum toxin type A and physiotherapy in a 7-year-old 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 MyotonPro(®). 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). RESULTS: This therapeutic approach resulted in highly satisfactory outcomes for the child's well-being, which was maintained until the sixth month and was accompanied by a complete absence of any side effects.