Publications by authors named "Mary McConville"
Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss. Although it is suggested that cardiac muscle may be spared, people with FSHD have demonstrated autonomic dysregulation.
View Article and Find Full Text PDFPurpose: Determine 1) if adults with facioscapulohumeral muscular dystrophy (FSHD) exhibit exercise intolerance and 2) potential contributing mechanisms to exercise intolerance, specific to FSHD.
Methods: Eleven people with FSHD (47 ± 13 yr, 4 females) and 11 controls (46 ± 13 yr, 4 females) completed one visit, which included a volitional peak oxygen consumption (V̇O2peak) cycling test. Breath-by-breath gas exchange, ventilation, and cardiovascular responses were measured at rest and during exercise.
Resting metabolic rate in adults with facioscapulohumeral muscular dystrophy.
Appl Physiol Nutr Metab
September 2021
This study aimed to determine whether resting metabolic rate (RMR) is altered in adults with facioscapulohumeral muscular dystrophy (FSHD). Eleven people with FSHD (51 ± 12yrs, 2 females) and 11 controls (48 ± 14 yrs, 2 females) completed 1 visit, including 30-minutes of indirect calorimetry and dual-energy X-ray absorptiometry (DXA) scanning. RMR was calculated from resting oxygen consumption/carbon dioxide production; regional/whole-body fat mass and lean mass were collected from the DXA scan.
View Article and Find Full Text PDFBackground: Sarcopenic obesity has been observed in people with neuromuscular impairment, and is linked to adverse health outcomes. It is unclear, however, if sarcopenic obesity develops in adults with facioscapulohumeral muscular dystrophy (FSHD).
Methods: The purpose of this study was to determine if adults with FSHD meet criteria for sarcopenic obesity (appendicular lean mass index (ALMI) scores of < 7.