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Walking abnormalities are prominent in Duchenne muscular dystrophy (DMD). We modified the 6-minute walk test (6MWT) for use as an outcome measure in patients with DMD and evaluated its performance in 21 ambulatory boys with DMD and 34 healthy boys, ages 4 to 12 years. Boys with DMD were tested twice, approximately 1 week apart; controls were tested once.(More)
INTRODUCTION Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. METHODS Objective is to propose consensus-based treatment and(More)
INTRODUCTION Data is currently lacking anchoring a 30-meter longitudinal change in walking ability by 6-minute walk test (6MWT) in Duchenne muscular dystrophy as a minimal clinically important difference and "clinically meaningful" person-reported outcomes (PROs) at differing levels of ambulatory ability. METHODS We describe correlation between measures,(More)
UNLABELLED introduction: Glucocorticoid (GC) therapy in Duchenne muscular dystrophy (DMD) has altered disease progression, necessitating contemporary natural history studies. METHODS The Cooperative Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 DMD males, ages 2-28 years. A comprehensive battery of measures was(More)
We recently described a modified version of the 6-minute walk test (6MWT) for Duchenne muscular dystrophy (DMD) based partly on the American Thoracic Society (ATS) guidelines. This measure has shown reliability, validity and utility as a primary outcome measure in DMD clinical trials. Because loss of muscle function in DMD occurs against the background of(More)
Duchenne muscular dystrophy (DMD) is characterized in skeletal muscle by cycles of myofiber necrosis and regeneration leading to loss of muscle fibers and replacement with fibrotic connective and adipose tissue. The ongoing activation and recruitment of muscle satellite cells for myofiber regeneration results in loss of regenerative capacity in part due to(More)
In this study we used the 6-minute walk distance (6MWD) to characterize ambulation over time in Duchenne/Becker muscular dystrophy (DBMD). The 6MWD was assessed in 18 boys with DBMD and 22 healthy boys, ages 4-12 years, over mean [range] intervals of 58 [39-87] and 69 [52-113] weeks, respectively. Height and weight increased similarly in both groups. At 52(More)
Fibrocartilaginous embolism is a rare cause of spinal cord infarction. It is postulated that an acute vertical disk herniation of the nucleus pulposus material can lead to spinal cord infarction by a retrograde embolization to the central artery. An increased intradiskal pressure resulting from axial loading of the vertebral column with a concomitant(More)
A previously healthy 26-yr-old male presented for an electrodiagnostic evaluation with complaints of significant right deltoid muscle atrophy and shoulder abduction weakness after receiving an intramuscular (IM) deltoid injection of an antiemetic 4 wk earlier. Electrodiagnostic evaluation confirmed an acute axillary neuropathy. We hypothesize that direct(More)