Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort

Abstract

Introduction/Aims: The full spectrum of the clinical phenotype of facioscapulohumeral muscular dystrophy (FSHD), beyond skeletal muscle weakness, remains poorly characterized. In this study, we describe systemic manifestations and symptom burden in a large series of FSHD patients.Methods: We performed a retrospective chart review of FSHD patients seen at our institution between 2000 and 2017. We reviewed patients' responses to a comprehensive review of symptoms and the results of diagnostic testing for sensorineural hearing loss, cardiac disease, dysphagia, ocular abnormalities, and respiratory insufficiency. We assessed the association between disease manifestations and age of onset, genetic profile, and disease duration. Results:We identified 87 patients with FSHD. The most common reported symptoms included pain (71%), difficulty sleeping (41%), headaches (27%), and altered mood (24%). When tested, 7 of 16 (44%) patients had sensorineural hearing loss, 20 of 60 (33%) had cardiac arrhythmias or conduction defects, 17 of 45 (38%) had echocardiogram abnormalities, 12 of 25 (48%) had reduced forced vital capacity, and 4 of 10 (40%) had oropharyngeal dysphagia. However, patients with these abnormalities represented 8%, 23%, 20%, 14%, and 5% of total number of patients, respectively, as uniform screening was lacking. Ocular pathology attributable to FSHD was not detected.Discussion: FSHD demonstrates a broad clinical phenotype. Increased vigilance among neurologists to screen for systemic manifestations of the disease is warranted.More uniform screening and future population-based studies are needed to compare findings in FSHD patients with the general population.

Long-Term Systemic Treatment of a Mouse Model Displaying Chronic FSHD-like Pathology with Antisense Therapeutics That Inhibit DUX4 Expression

“…Although the life expectancy is normal, over 90% of FSHD patients experience chronic fatigue [ 5 ]. More than one third of patients have reported respiratory dysfunction, cardiac arrythmias and/or sensorineural hearing loss [ 6 , 7 , 8 ]. Sleep-related breathing disorders have been additionally identified in at least 40% of patients [ 9 ].…”

The FSHD jigsaw: are we placing the tiles in the right position?

“…Both studies reported a faster rate of progression to wheelchair use in females. Besides the US and China studies on hundreds of participants, other studies on smaller cohorts confirmed the significant clinical variability among early-onset FSHD patients [20], including a wide spectrum of extramuscular manifestations, highlighting the need for careful monitoring of systemic symptoms by physicians [21]. A 5-year follow-up on respiratory function in FSHD patients showed that 44.6% presented a restrictive ventilatory pattern at baseline.…”

Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact

“…Prior studies of GI and GU symptoms in FSHD are limited and these symptoms might not be identified in the course of routine clinical care. In a recent retrospective chart review of 87 patients in a referral cohort, only 10 had recorded information about oropharyngeal function, and only four of those 10 (5% of the total cohort) reported dysphagia as a symptom 15 . In a different study of 20 patients with FSHD, 40% reported dysphagia when directly questioned 16 .…”

“…In a recent retrospective chart review of 87 patients in a referral cohort, only 10 had recorded information about oropharyngeal function, and only four of those 10 (5% of the total cohort) reported dysphagia as a symptom. 15 In a different study of 20 patients with FSHD, 40% reported dysphagia when directly questioned. 16 In our study, when we specifically asked about dysphagia, 16% of respondents with FSHD reported difficulty swallowing food at least once a week and 25% reported modifying the way they ate due to swallowing difficulties.…”