The objective of this 12-month study was to describe the clinical features of late-onset Pompe disease and identify appropriate outcome measures for use in clinical trials. Assessments included quantitative muscle testing (QMT), functional activities (FAA), 6-min walk test (6MWT), and pulmonary function testing (PFT). Percent predicted values indicated quantifiable upper and lower extremity weakness, impaired walking ability, and respiratory muscle weakness. Significant declines in arm and leg strength and pulmonary function were observed during the study period. The outcome measures were demonstrated to be safe and reliable. Symptom duration was identified as the best predictor of the extent of skeletal and respiratory muscle weakness.
To examine the prevalence and characteristics of pain in children with neuromuscular disease (NMD), 42 youths with NMD underwent a comprehensive evaluation including a detailed intake interview and structured questionnaire that included demographic and functional data. Youths who reported chronic pain were further queried about pain characteristics, locations, and intensity using an 11-point numerical rating scale and a modified Brief Pain Inventory (BPI). The sample consisted of 24 males (57%) and 18 females (43%), ages ranging from 9 to 20 years (M = 14.8, SD = 2.96). Participants included 14 (37%) with Duchenne-muscular dystrophy, 6 (14%) with myotonic dystrophy, 2 (5%) with Becker dystrophy, 2 (5%) with limb-girdle dystrophy, 2 (5%) with congenital muscular dystrophy, 1 (2%) facioscapulohumeral, and 15 (36%) were classified as "other NMD." Twenty-one (50%) were ambulatory; 26 (62%) used power wheelchairs/scooters, 9 (2%) used manual wheelchairs, 3 (.07%) used crutches/canes, and 1 (2%) used a walker. A total of 23 (55%) of the youths reported having chronic pain. Current pain intensity was 1.30(range=0-6), mean pain intensity over the past week was 2.39 (range = 0-7), mean pain duration was 8.75 hours (SD=12.84). Pain in the legs was most commonly reported and 83% reported using pain medications. This study indicates that chronic pain is a significant problem in youths with NMD. These data strongly support making comprehensive pain assessment and management an integral part of the standard of care for youths with NMD.
Few studies have examined the effect of pain on the quality of life of individuals with slowly progressive neuromuscular disease (NMD). The purpose of this study was to determine the frequency and extent to which subjects with slowly progressive NMD report pain and the association between pain and health-related quality of life in persons with NMD. The study design was a descriptive, nonexperimental survey. Of a total of 1,432 subjects with slowly progressive NMDs recruited from a university-based NMD clinic and the membership rosters of worldwide NMD support organizations, 859 agreed to participate. The primary measurement tool used was the Medical Outcomes Study SF-36 health survey. Our results indicated that, with the exception of adult spinal muscular atrophy (SMA), the frequency and severity of pain reported in slowly progressive NMDs was significantly greater than levels of pain reported by the general US population and was comparable to pain reported by subjects with osteoarthritis and chronic low back pain. There was a significant correlation between increased pain and lower levels of general health, vitality, social function, and physical role. Pain was moderately associated with increased fatigue, inability to cope adequately with stress, and sleep disturbance. In conclusion, with the exception of adult SMA, the frequency and severity of pain reported in slowly progressive NMDs was significant.
Objective-To determine the nature and scope of pain in working-aged adults with myotonic muscular dystrophy (MMD) and facioscapulohumeral muscular dystrophy (FSHD).Design-Retrospective, cross-sectional survey. Setting-Community-based survey.Participants-Convenience sample of subjects with MMD and FSHD. Interventions-Not applicable.Main Outcome Measures-Overall intensity and duration of pain, pain inference, pain sites, pain treatments, and relief provided by pain treatments.Results-More subjects with FSHD (82%) than with MMD (64%) reported pain. The most frequently reported pain sites for both diagnostic groups were lower back (66% MMD, 74% FSHD) and legs (60% MMD, 72% FSHD). Significant differences in pain intensity were found between the diagnostic groups in the hands, legs, knees, ankles, and feet, with patients with MMD reporting greater pain intensity at these sites than patients with FSHD. Age was related to the onset of pain (participants reporting pain were younger than those not reporting pain in the FSHD sample), but pain severity was not significantly associated with age in those reporting pain. Respondents with both diagnoses that reported mobility limitations and used assistive devices (eg, wheelchair, cane) reported more pain severity than those with mobility limitations who did not use assistive devices, who, in turn, reported more pain severity than respondents who reported no mobility limitations at all. The treatments that were reported to provide the greatest pain relief were not necessarily those that were the most frequently tried or still used. © 2008 by the American Congress of Rehabilitation Medicine and the American Academy of Physical Medicine and RehabilitationReprint requests to Mark P. Jensen, PhD, Dept of Rehabilitation Medicine, University of Washington, Box 356490, Seattle, WA 98195-6490, e-mail: mjensen@u.washington.edu. Publisher's Disclaimer: This article was published in an Elsevier journal. The attached copy is furnished to the author for non-commercial research and education use, including for instruction at the author's institution, sharing with colleagues and providing to institution administration. Other uses, including reproduction and distribution, or selling or licensing copies, or posting to personal, institutional or third party websites are prohibited. In most cases authors are permitted to post their version of the article (e.g. in Word or Tex form) to their personal website or institutional repository. Authors requiring further information regarding Elsevier's archiving and manuscript policies are encouraged to visit: http://www.elsevier.com/copyrightNo commercial party having a direct financial interest in the results of the research supporting this article has or will confer a benefit upon the authors or upon any organization with which the authors are associated. NIH Public Access Author ManuscriptArch Phys Med Rehabil. Author manuscript; available in PMC 2010 February 25. Published in final edited form as:Arch Phys Med Rehabil. 2008 February ; 89(2): 3...
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