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BACKGROUND AND PURPOSE Specific characteristics of physical activity limitations associated with multiple sclerosis (MS) remain unclear. Our purpose was to examine the impact of MS disability on physical activity behaviors involving ambulation. We also explored relationships among ambulatory activity parameters and clinical measures of gait, balance, and(More)
BACKGROUND AND PURPOSE Resistance exercise via negative, eccentrically induced work (RENEW) has been shown to be associated with improvements in strength, mobility, and balance in multiple clinical populations. However, RENEW has not been reported for individuals with multiple sclerosis (MS). METHODS Nineteen individuals with MS (8 men, 11 women; age mean(More)
Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly in the absence of a family history of dystrophinopathy. We review the clinical and genetic features in 15 manifesting carriers identified among 860 subjects within the United Dystrophinopathy Project, a large clinical dystrophinopathy cohort whose members undergo(More)
Cognitive impairment is prevalent, disabling, and poorly managed in persons with multiple sclerosis (MS). This cross-sectional study examined the associations among physical activity, cognitive processing speed, and learning and memory in 33 persons with MS who underwent neuropsychological assessments and wore a physical activity monitor for 7 days.(More)
OBJECTIVE Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor-β binding protein 4, was previously discovered in a genome-wide scan as a modifier of murine muscular dystrophy. We sought to determine whether LTBP4 genotype influenced DMD(More)
INTRODUCTION Duchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren. Placebo arm data (N = 57) provided insight into the natural history of the 6-minute walk test (6MWT) and other endpoints. METHODS Evaluations performed every 6(More)
INTRODUCTION Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. METHODS Randomized, double-blind, placebo-controlled study; males ≥ 5 years with nm-dystrophinopathy received study(More)
INTRODUCTION An international clinical trial enrolled 174 ambulatory males ≥5 years old with nonsense mutation Duchenne muscular dystrophy (nmDMD). Pretreatment data provide insight into reliability, concurrent validity, and minimal clinically important differences (MCIDs) of the 6-minute walk test (6MWT) and other endpoints. METHODS Screening and(More)
BACKGROUND AND PURPOSE Spasticity is a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes that presumably affects mobility and balance. This investigation examined the hypothesis that persons with multiple sclerosis (MS) who have spasticity of the lower legs would have more impairment of mobility and balance compared to(More)
BACKGROUND AND PURPOSE The sensory and motor deficits associated with multiple sclerosis (MS) contribute to falls with the majority of persons with MS falling at least once annually. To appropriately direct treatment, accurate fall prediction measures are needed. In this study of community-dwelling individuals with MS followed for 12 months, we sought to(More)