Little Kseniya has a pronounced persistent atactic syndrome with muscular hypotension, delayed speech development, and progressive cerebellar atrophy, according to MRI of the brain. Convulsive syndrome with the presence of tonic-clonic febrile and afebrile seizures, with medicine remission after 1 year and seven months. Kseniya needs a complete genome sequencing. The child was supported by «Chance» program.
The complete sequencing of the genome carried out in 2023 made it possible to determine the exact diagnosis of the child - cerebral palsy, an atonic-astatic form caused by a mutation in the HIGT gene. Ksenia has maintained the volume of active and passive movements. The girl stands up and walks with assistance, whether it's from her hands or a walker. Ksenia is a sociable person with a balanced mood and a good understanding of speech. With regular rehabilitation courses, there has been an improvement in the child's condition. Kseniya needs rehabilitation for the musculoskeletal system. The assistance was provided within the framework of the program «Joy of movement».
