Musculoskeletal disturbances in women with Turner’s syndrome – case report
Małgorzata Domagalska-Szopa, Andrzej Szopa, Weronika Gallert-Kopyto, Krzysztof Bąk, Anna Dawczyk, Aneta Gawlik, Agnieszka Drosdzol-Cop, Ryszard Plinta
M. Domagalska-Szopa, A. Szopa, W. Gallert-Kopyto, K. Bąk, A. Dawczyk, A. Gawlik, A. Drosdzol-Cop, R. Plinta – Musculoskeletal disturbances in women with Turner’s syndrome – case report. FP 2015; 15(2); 82-90
Turner’s syndrome term defines the most commonly encountered genetic aberration, connect-ed with genital chromosomes. In girls and women with Turner’s syndrome, characteristic ex-ternal appearance features (called Turner’s phenotype) occur. Moreover, patients also exhibit disturbances directly related to musculosceletal system. Presented case study is based on the results of the functional assessment of 18 years old – randomly selected – patient from Paediatric, Endocrinology and Children’s Diabetology, where on the basis of cytogenetic examination high concentration of gonadotropins typical for Turner’s syndrome was found. As part of the research, following exams have been made: ob-jective photogrammetric assessment of body posture, spirometry measurement, computerized evaluation of feet arches, assessment of body weight distribution and three dimensional gait analysis. The results of this study revealed various functional disturbances in: postural control, pelvic space orientation, weight bearing distribution and in gait pattern. However, there were no spirometry and basic stabilography measures disturbances. Received results may suggest the presence of other disturbances in Turner’s syndrome than those described in literature. Confirmation of musculosceletal functional disorders would indicate the need for early functional diagnostic procedures and early physiotherapy intervention in patients with Turner’s syndrome starting in infancy.
photogrammetric assessment of body posture, spirometric measurements, computer assessment of feet arches, assessment of body-weight distribution, three-dimensional gait analysis