What can we learn from assisted bicycle training in a girl with dystrophinopathy? A case study.
In this case study, a 9-year-old ambulatory girl with dystrophinopathy due to a mosaic translocation mutation participated in dynamic training. Because the role of exercise is unclear in both boys and girls with dystrophinopathy, a recently developed assisted bicycle training regimen was evaluated for its feasibility and effectiveness in this girl. The girl trained at home, first 15 minutes with her legs and then 15 minutes with her arms, 5 times a week, for 24 weeks. This case study showed that the training was feasible and safe. In addition, we found that no physical deterioration occurred during the training period: the Motor Function Measure and the Assisted 6-Minute Cycling Test results remained stable. Slight improvements in quantitative muscle ultrasound intensity were found, indicating less fatty infiltration in the muscles. These results suggest that physical training could be beneficial in females with dystrophinopathy who express low levels of dystrophin.
Department of Rehabilitation, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
Jilske
J
Huijben
Department of Rehabilitation, Nijmegen Centre for Evidence Based Practice, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands M.Jansen@reval.umcn.nl.
Merel
M
Jansen
Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Ieke B
IB
Ginjaar
Department of Pathology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Martin
M
Lammens
Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Maaike
M
van Putten
Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
Nens
N
van Alfen
Department of Rehabilitation, Nijmegen Centre for Evidence Based Practice, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
Imelda J M
IJ
de Groot
D001642:Bicycling; D002648:Child; D018450:Disease Progression; D005081:Exercise Therapy / Q000379:methods*; D005240:Feasibility Studies; D005260:Female; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology / Q000534:rehabilitation*; D016896:Treatment Outcome; D014463:Ultrasonography
Becker muscular dystrophy; Duchenne muscular dystrophy; assisted bicycle training; dystrophinopathy; exercise; female