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Muscular Dystrophy
The most common form of muscular dystrophy is Duchenne muscular dystrophy (DMD), which affects approximately 1 in 3,500 boys. This degenerative and devastating disease is an X-linked chromosomal, recessive muscle disorder caused by the lack of a muscle protein (dystrophin). Boys with DMD experience a gradual decrease in their ability to walk and move as their muscles get weaker with time, and this progressive disease is universally fatal with most patients passing by their mid-20’s.
Currently, assessment of therapeutic approaches in both children with DMD and animal models relies heavily on muscle biopsies. This invasive technique is problematic in evaluating the efficacy of interventions in patients with DMD who often have extensive muscle damage and cardiac pathology. Therefore, it is imperative to develop non-invasive techniques capable of evaluating changes in muscle integrity in both clinical and pre-clinical studies. With this goal in mind, researchers in the Muscle Physiology Laboratory are using magnetic resonance imaging (MRI) and spectroscopy (MRS) as non-invasive measures to quantify disease progression and treatment for muscular dystrophy. With support from the Muscular Dystrophy Association and Parent Project Muscular Dystrophy, patients with DMD from all over the United States and Canada are participating in a longitudinal study to validate the use of MRI and MRS in monitoring disease progression.
We are evaluating these patients for muscle size (MRI), muscle composition (MRS), leg strength (dynamometry), gait and movement abilities (functional timed tests), breathing ability/strength (respiratory measures), walking ability (gait parameters), physical activity (accelerometers), and quality of life (questionnaires). Findings from this study will be used to validate the use of MRI/MRS in clinical trials as well as to build upon the existing knowledge base to provide optimal rehabilitation care for patients with DMD.
Study Participation
If you or your child has DMD and would be interested in learning more about this study, please contact:
Claudia Senesac, PT, PhD, PCS
Email: csenesac@phhp.ufl.edu
Phone: (352) 273-6453.
Click on the thumbnails to enlarge the following photos regarding research within the Muscle Physiology Laboratory (below):
