Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

Abstract

IntroductionEarlier small case series and clinical observations reported on chronic pain playing an important role in facioscapulohumeral dystrophy (FSHD). The aim of this study was to determine the characteristics and impact of pain on quality of life (QoL) in patients with FSHD.MethodsWe analyzed patient reported outcome measures collected through the U.K. FSHD Patient Registry.ResultsOf 398 patients, 88.6% reported pain at the time of study. The most frequent locations were shoulders and lower back. A total of 203 participants reported chronic pain, 30.4% of them as severe. The overall disease impact on QoL was significantly higher in patients with early onset and long disease duration. Chronic pain had a negative impact on all Individualised Neuromuscular Quality of Life Questionnaire domains and overall disease score.DiscussionOur study shows that pain in FSHD type 1 (FSHD1) is frequent and strongly impacts on QoL, similar to other chronic, painful disorders. Management of pain should be considered when treating FSHD1 patients. Muscle Nerve 57: 380–387, 2018

Frequency of reported pain in adult males with muscular dystrophy

“…All participants were tested in a single session; the MD groups were recruited from and tested at a neuromuscular clinic and the Control group (CTRL) were tested at the local university. Only male participants were recruited to reflect the x-linked nature of DMD and BMD [29], as well as previous evidence of increased pain perception/reporting in females compared to males in CTRL [30, 31] and FSHD [11, 12] populations. Of the 75 participants initially recruited, all completed the required experimental procedures.…”

“…The body map was then manually analysed using two segmentation methods. The first method segmented the body map using a broad eight anatomical region diagram (Fig 1B; hereafter referred to as “generalised”) consistent with that used by Moris et al [12]. The second segmentation method used a 60 region diagram (Fig 1C; hereafter referred to as localised), to provide a more comprehensive assessment of pain [43].…”

“…DMD, LGMD and FSHD [10, 26, 27]), or proximal-distal pain (e.g. DMD, BMD and FSHD [6, 12]). In comparison, Bergsma, Janssen (27) used a more localised body map approach to compare pain in adults with DMD, LGMD and FSHD, however only assessed the upper limbs [27].…”

Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments

“…Patients often report problems with activities above their shoulders, difficulty whistling, sleeping with eyes open (reported by spouses or parents), catching their toes due to foot drop, and change in their appearance due to atrophy and muscle weakness with scapular winging and protuberant abdomen. Pain and fatigue are commonly experienced [39]. Neurological examination is characteristic: weakness of the periscapular muscles, specifically weakness of the lower trapezius muscle, results in winging and upward movement of the scapula with rounding of the shoulders and horizontal clavicles.…”

“…Pain is common in patients with FSHD [39,56], mostly thought to be musculoskeletal, although a contributing inflammatory component has been discussed, specifically for periodically occurring pains [56]. Physical therapists can help to elucidate the mechanism of musculoskeletal pain, often times originating from scapular instability or truncal weakness.…”