What is the difference in quality of life and functioning in adult facioscapulohumeral muscular dystrophy patients who are on non-invasive ventilation Bi-Pap versus age matched FSHD patients not on ventilation in a long term longitudinal study?
There is an urgent need to develop quantifiable biomarkers for acute sleep loss, chronic sleep insufficiency, circadian disruption and sleep disorders such as obstructive sleep apnea. These problems are highly prevalent but currently we do not have biomarkers to use for case identification, prognosis, or assessing response to therapy. There are currently small studies that indicate the feasibility. A recent workshop... more »
Loss of diaphragm function and impaired respiration is a leading driver of morbidity and mortality in the adult muscular dystrophies such as facioscapulohumeral muscular dystrophy, and therefore requires additional study
There is an unmet need for the NHLBI to foster basic, preclinical and clinical research on the pulmonary consequences of respiratory insufficiency, and specifically with hypercarbic (high CO2) respiratory insufficiency, in facioscapulohumeral muscular dystrophy (FSHD) and other adult muscular dystrophies. The adult muscular dystrophies have received insufficient attention, both from research and clinical practice perspectives.... more »
There is a need for NHLBI to develop guidelines, standard of care, new technologies for respiratory care for adult muscular dystrophy (facioscapulohumeral, myotonic and limb girdle) patients with undiagnosed or unforeseen hypercarbia CO2 retention in the acute setting who end up in trouble to help the families, doctors and patients navigate their way back to stable condition e.g. perhaps going forward with non-invasive... more »