Physical Therapy Summary
Individuals with Kabuki syndrome typically exhibit low tone, also known as hypotonia. A physiotherapist is able to evaluate and develop a long-term plan to aid in strengthening the muscles.
Muscle tone refers to the amount of tension in the muscle. Tension changes in the muscles are required for movement. The muscles need to be able to change from a resting muscle tone to a reactive tone so that the individual can adapt to outside forces, either through balance or protective responses.
Children with hypotona have more difficulty reacting quickly to outside forces and cannot sustain the contractions as long, tiring easily. The child with Kabuki syndrome will often feel floppy and much more effort is required on his part to complete activities. Muscle tone is not be confused with muscle strength, which can be increased with repetitive exercises. Muscle tone deficiences can involve both the muscles themselves and the central nervous system.
Physical therapy develops gross (large) muscle development. Therapists work on strengthening muscles for rolling over, crawling and eventual walking. This is especially important for individuals with Kabuki syndrome since, aside from hypotonia, they may also have lax ligaments. Theoretically, the stronger the muscles become, the less chance of dislocations. Teenage girls are more succeptible to patellai dislocations around the time of puberty due to a shift (and possible increase) in weight distribution.