Telemedicine for Facio-Scapulo-Humeral Muscular Dystrophy: A multidisciplinary approach to improve quality of life and reduce hospitalization rate?

Abstract

BackgroundFacio-Scapulo-Humeral Muscular Dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by a variable and asymmetric involvement of facial, trunk, upper and lower extremity muscles. Although respiratory weakness is a relatively unknown feature of FSHD, it is not rare. Telemedicine has been used in a variety of health care fields, but only recently, with the advent of sophisticated technology, its interest among health professionals became evident, even in such diseases. ObjectiveTo demonstrate the telemedicine efficacy in FSHD. MethodsFour siblings affected by a severe form of FSHD, living in a rural area far away from the referral center for neuromuscular diseases, who used a wheelchair, suffered from chronic respiratory failure and were provided with long-term non-invasive mechanical ventilation, received a 6-month period of telemedicine support. This consisted of video conferencing (respiratory physiotherapy, psychological support, neurological and pneumological assessment, nurse-coach supervision) and telemonitoring of cardiorespiratory variables (oxygen saturation, blood pressure, and heart rate). ResultsWe performed 540 video conference sessions per patient, including three daily contacts with short monitoring oximetry measurements, blood pressure, and heart-rate measurements, psychological support, neurological and pneumological assessment, nurse-coach supervision. ConclusionsOur findings indicate that our telemedicine system was user-friendly, efficient for the home treatment of FSHD, and allowed reducing hospital admissions.