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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)
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)
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)
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)
Fifty-four multiple sclerosis (MS) patients were randomly assigned to exercise (EX) or nonexercise (NEX) groups. Before and after 15 weeks of aerobic training, aspects of fitness including maximal aerobic capacity (VO2max), isometric strength, body composition, and blood lipids were measured. Daily activities, mood, fatigue, and disease status were measured(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)
INTRODUCTION Preliminary evidence in adults with spinal muscular atrophy (SMA) and in SMA animal models suggests exercise has potential benefits in improving or stabilizing muscle strength and motor function. METHODS We evaluated feasibility, safety, and effects on strength and motor function of a home-based, supervised progressive resistance strength(More)