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Objective: The aim of this study was to describe Duchenne muscular dystrophy (DMD) disease progression in the lower extremity muscles over 12 months using quantitative magnetic resonance (MR) biomarkers, collected across three sites in a large cohort., Methods: A total of 109 ambulatory boys with DMD (8.7 ± 2.0 years; range, 5.0-12.9) completed baseline and 1-year follow-up quantitative MR imaging (transverse relaxation time constant; MRI-T2 ), MR spectroscopy (fat fraction and (1) H2 O T2 ), and 6-minute walk test (6MWT) measurements. A subset of boys completed additional measurements after 3 or 6 months., Results: MRI-T2 and fat fraction increased significantly over 12 months in all age groups, including in 5- to 6.9-year-old boys. Significant increases in vastus lateralis (VL) fat fraction were observed in 3 and 6 months. Even in boys whose 6MWT performance improved or remained stable over 1 year, significant increases in MRI-T2 and fat fraction were found. Of all the muscles examined, the VL and biceps femoris long head were the most responsive to disease progression in boys with DMD., Interpretation: MR biomarkers are responsive to disease progression in 5- to 12.9-year-old boys with DMD and able to detect subclinical disease progression in DMD, even within short (3-6 months) time periods. The measured sensitivity of MR biomarkers in this multicenter study may be critically important to future clinical trials, allowing for smaller sample sizes and/or shorter study windows in this fatal rare disease., (© 2016 American Neurological Association.)

Purpose: While most studies of Duchenne muscular dystrophy (DMD) have focused on physical impairment, there is a need to explore how impairment impacts real-life experiences in order to provide intervention strategies focused on participation. Objectives were: (1) to investigate the domains of participation in a sample of boys with DMD; (2) to compare a younger (<10 years) and older (≥10 years) group of boys with DMD with regard to participation; (3) to investigate strength and timed functional tests in a sample of boys with DMD; (4) to compare a younger (<10 years) and older (≥10 years) group of boys with DMD with regard to strength and timed functional tests; and (5) to explore associations between participation and strength and timed functional tests for our DMD cohorts., Methods: This cross-sectional study included 60 boys with DMD (mean 9.3 years ± 0.3). Boys completed strength testing, timed functional tests, the Children's Assessment of Participation and Enjoyment and the ACTIVLIM. Independent samples t-tests were used to test for differences in all measures between our younger and older cohorts; Spearman's (rank) correlation was used to assess relationships between participation and strength and time functional tests., Results: Significant differences were found between our younger and older boys with DMD in the areas of recreational (p < 0.01), social (p < 0.001), and skill-based activities (p < 0.05), as well as with whom and where the activities were performed (p < 0.05 and 0.001, respectively). Older boys with DMD report lower levels of participation in these areas, as well as less engagement in activities with individuals other than family members and less participation outside of the home. Lower levels of strength and slower rates of functional performance correlate with participation in fewer physical activities for our younger cohort and fewer physical and social activities for our older cohort., Conclusions: Strength and function relate to the variability and type of activities in which boys with DMD participate. A key finding is the significant decline in social activities and community-based engagement as the boys with DMD age. The ultimate goal of an intervention is for our children to be as actively engaged in life as they desire. This requires addressing participation when measuring outcomes in order to more fully understand limitations and provide appropriate strategies for continued participation for boys and their families., Implications for Rehabilitation: Duchenne muscular dystrophy is a devastating progressive neuromuscular disorder that leads to significant strength and functional limitations, which affect physical and social participation for these boys. The ability to move beyond clinically-based outcomes and assess and monitor a child's daily activities through participation measures may provide information for therapeutic interventions. Rehabilitation specialists have a role as advocates for social and community engagement for children with physical limitations. Providing families with information on community-based opportunities, and the strategies and environmental modifications available may increase social participation for our youth growing up with a neuromuscular disorder.

Duchenne muscular dystrophy (DMD) is a muscle degenerative disorder that manifests in early childhood and results in progressive muscle weakness. Physical therapists have long been an important component of the multidisciplinary team caring for people with DMD, providing expertise in areas of disease assessment, contracture management, assistive device prescription, and exercise prescription. Over the last decade, magnetic resonance imaging of muscles in people with DMD has led to an improved understanding of the muscle pathology underlying the clinical manifestations of DMD. Findings from magnetic resonance imaging (MRI) studies in DMD, paired with the clinical expertise of physical therapists, can help guide research that leads to improved physical therapist care for this unique patient population. The 2 main goals of this perspective article are to (1) summarize muscle pathology and disease progression findings from qualitative and quantitative muscle MRI studies in DMD and (2) link MRI findings of muscle pathology to the clinical manifestations observed by physical therapists with discussion of any potential implications of MRI findings on physical therapy management. [ABSTRACT FROM AUTHOR]

Introduction: Tests of ambulatory function are common clinical trial endpoints in Duchenne muscular dystrophy (DMD). Using these tests, the ImagingDMD study has generated a large data set that can describe the contemporary natural history of DMD in 5-12.9-year-olds.Methods: Ninety-two corticosteroid-treated boys with DMD and 45 controls participated in this longitudinal study. Participants performed the 6-minute walk test (6MWT) and timed function tests (TFT: 10-m walk/run, climbing 4 stairs, supine to stand).Results: Boys with DMD had impaired functional performance even at 5-6.9 years old. Boys older than 7 had significant declines in function over 1 year for 10-m walk/run and 6MWT. Eighty percent of participants could perform all functional tests at 9 years old. TFTs appear to be slightly more responsive and predictive of disease progression than the 6MWT in 7-12.9 year olds.Discussion: This study provides insight into the contemporary natural history of key functional endpoints in DMD. Muscle Nerve 58: 631-638, 2018. [ABSTRACT FROM AUTHOR]

Background. Duchenne muscular dystrophy (DMD), an inherited recessive X chromosome-linked disease, is the most severe childhood form of muscular dystrophy. Boys with DMD experience muscle loss, with infiltration of intramuscular fat into muscles. Objectives. This case series describes the progression of DMD in boys using magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS). Magnetic resonance results are then compared with an established functional timed test. Methods. Four boys with DMD and 4 healthy age-matched controls were chosen from a larger cohort. Boys with DMD were assessed at 4 time points over 2 years, with controls assessed at baseline only. Progression of the disease was documented by assessing the plantar flexors using MRJ and MRS techniques and by assessing ambulation using the 30-Foot Fast Walk Test. Results. Transverse relaxation time (T2 values were elevated in all boys with DMD at baseline. The lipid ratio increased rapidly as the disease progressed in 2 boys. Discrete changes in T2 in the other 2 boys with DMD indicated a slower disease progression. Magnetic resonance imaging and MRS allowed monitoring of the disease over all time periods regardless of ambulation status. Limitations. The magnetic resonance data were collected with 2 different magnets at 2 different field strengths (1.5 and 3-0 T). Although we corrected for this difference, care must be taken in interpreting data when different image collection systems are used. This was a case series of 4 boys with DMD taken from a larger cohort study. Conclusions. Magnetic resonance imaging and MRS are objective, noninvasive techniques for measuring muscle pathology and can be used to detect discrete changes in both people who are ambulatory and those who are nonambulatory. These techniques should be considered when monitoring DMD progression and assessing efficacy of therapeutic interventions. [ABSTRACT FROM AUTHOR]

Objective The main objective of this study was to examine the effect of disease on strength in two functionally important lower limb muscles for a period of 2 yrs in children with Duchene muscular dystrophy. Design Seventy-seven Duchene muscular dystrophy children participated in this study. Plantar flexors, knee extensors, strength, and performance on timed tests (6-min walk, 4-stairs, 10-m walk, supine-up) were assessed yearly for 2 yrs. Multivariate normal regression was used to assess changes in strength over time in the Duchene muscular dystrophy group. Spearman correlations were computed to examine relationship between strength and function. Results Normalized plantar flexor and knee extensor strength showed a significant decrease (P < 0.05) over 2 yrs, with larger declines in knee extensor. At baseline, knee extensor strongly correlated with performance on timed tests. However, plantar flexor strength was found to be a stronger predictor of loss in ambulatory function. Modest correlations (r = 0.19--0.34) were found between the decline in strength and functional performance over 2 yrs. Conclusions This study describes the loss of lower limb strength in a large cohort of Duchene muscular dystrophy children for 2 yrs. The findings support that lower limb strength alone cannot account for the decline in performance on functional tests, and the role of other contributing factors, such as compensatory strategies, should be considered. [ABSTRACT FROM AUTHOR]