Patient‐identified disease burden in facioscapulohumeral muscular dystrophy

Abstract

Introduction The multitude of symptoms associated with facioscapulohumeral muscular dystrophy (FSHD) disease burden are of varying importance. The extent of these symptoms and their cumulative effect on the FSHD population is unknown. Methods We conducted interviews with adult FSHD patients to identify which symptoms have the greatest effect on their lives. Each interview was recorded, transcribed, coded, and analyzed using a qualitative framework technique, triangulation, and 3-investigator consensus approach. Results 1375 quotes were obtained through 20 patient interviews. 251 symptoms of importance were identified representing 14 themes of FSHD disease burden. Symptoms associated with mobility impairment, activity limitation, and social role limitation were most frequently mentioned by participants. Conclusions There are multiple themes and symptoms, some previously under-recognized, that play a key role in FSHD disease burden.

The relationship between physical symptoms and health‐related quality of life in oculopharyngeal muscular dystrophy

“…It is not known to what extent such symptoms are independent predictors of HRQoL in OPMD. Further qualitative studies are needed to identify the symptoms of greatest impact from the OPMD patient's perspective, as has been done for other muscular dystrophies …”

Risk of functional impairment in Facioscapulohumeral muscular dystrophy

“…Despite this, to the best of our knowledge, no studies have evaluated the incident risk of developing functional impairment related to FSHD. Many studies have described the clinical manifestations of FSHD retrospectively or in a cross‐sectional manner . FSHD is slowly progressive, often asymmetric; it initially affects the muscles of the face and shoulder and later the distal lower extremities and pelvic girdle.…”

The development and modelling of devices and paradigms for transcranial magnetic stimulation

“…The portfolio of available specialized coils includes devices for small animals, peripheral neural and neuromuscular stimulation, as well as various cortical targets (see Fig. 2) (Bustamante et al, 2013; Bustamante, Gorostiza, López de Santa María Miró, & Iturri, 2007; Crowther et al, 2011; Deng, Lisanby, & Peterchev, 2013; Emrich et al, 2012; Goetz, Afinowi, Herzog, & Weyh, 2013; Goetz, Herzog, Gattinger, & Gleich, 2011; Knäulein & Weyh, 1996; Mueller et al, 2014; Ruohonen, Ravazzani, Grandori, & Ilmoniemi, 1999; Szecsi, Götz, Pöllmann, & Straube, 2010; Ueno, et al, 1988a). Importantly, despite the diversity of available stimulation coils, all coils—including coils that aim at deeper stimulation—induce a stronger electric field on the cortical surface than in deeper locations (Heller & van Hulsteyn, 1992).…”

“…Important questions raised in the TMS community that could be solved by neuron models are the well-known experimental observations that biphasic pulses effectively stimulate, although they appear to compensate their depolarizing phase by their hyperpolarizing phase(s) and that polyphasic pulses even further decrease the threshold (Emrich, et al, 2012; Goetz, Weyh, & Herzog, 2009; Maccabee, et al, 1998; Pechmann et al, 2012). Similarly, neural models explain the higher threshold of monophasic relative to biphasic pulses as well as directional effects of the monophasic pulse shape (Salvador, et al, 2011b).…”