What Can We Learn From Assisted Bicycle Training in a Girl With Dystrophinopathy? A Case Study

Author:

Huijben Jilske1,Jansen Merel2,Ginjaar Ieke B3,Lammens Martin4,van Putten Maaike5,van Alfen Nens6,de Groot Imelda JM2

Affiliation:

1. Department of Rehabilitation, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands

2. Department of Rehabilitation, Nijmegen Centre for Evidence Based Practice, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands

3. Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands

4. Department of Pathology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium

5. Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands

6. Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands

Abstract

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.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

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