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Pain and FSHD


Pain and FSHD
A majority of FSHD patients reports pain, which often can be chronic.  Pain may be related, at least in part, to overuse of muscles and to fatigue.  Not many studies have been done about pain in FSHD.  Whether to treat pain, and, if so, how is a decision for each patient in consultation with his or her doctor.

For a discussion of treating pain, please see our Physical Therapy and FSHD brochure written by Wendy M. King, P. T., and Shree Pandya, P.T., M.S. published by the FSH Society by clicking HERE.

The following is an abstract of he study by Ted Abresch of University of California, Davis on FSHD and pain as presented at the FSH Society Facioscapulohumeral Muscular Dystrophy International Research Consortium 2007.

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Chronic Pain in Persons Facioscapulohumeral Dystrophy and other Neuromuscular Disorders
R. Ted Abresch
Department of Physical Medicine and Rehabilitation, UC Davis
Davis California 95616 USA           


            Recent preliminary research suggests that pain may be a significant problem for many persons with FSHD. For example, Bushby et al. recently reported on four individuals with FSHD who identified pain as their most disabling symptom and complained of between three to seven separate pain complaints. In addition, our group found that 83% of a sample of 811 individuals with various neuromuscular diseases (NMDs), including 64 persons with FSHD, reported at least some ongoing pain problems. Moreover, the frequency and severity of pain in their combined sample of patients with FSHD, MMD, and a sample of patients with limb-girdle syndrome was significantly greater than levels of pain reported by the general US population. In a more recent our group recently surveyed 193 individuals with a variety of NMDs, including 18 patients with FSHD and 26 patients with MMD, and found that 73% of the sample as a whole (89% of patients with FSHD and 69% of those with MMD) reported pain problems, with 27% of the overall sample reporting severe pain (19% of patients with FSHD and 50% of patients with MMD). We found that pain was reported to interfere moderately with a number of activities of daily living across all of the NMD diagnostic groups (range of interference ratings, 2.6 to 4.63 on 0 – 10 interference ratings scales) and to occur all over the body (least common, abdomen/pelvis at 16%; most common, back at 49%). However, we were unable to examine pain interference, pain sites, and pain treatments as a function of diagnostic group due to the low sample sizes of the individuals NMD diagnostic groups in our previous study.

            Although the preliminary findings from our group and others indicate that chronic pain can be a serious problem for many persons with FSHD, much remains unknown about the nature and scope of pain in these patient populations. Importantly, most of the research on pain that has been performed with patients with FSHD has reported findings from a mixed population of patients with limited sample sizes for particular diagnoses. This limits both the reliability and generalizability of the available findings. Descriptive analyses regarding pain with larger samples of patients with specific diagnoses would provide for greater reliability of the findings, and would allow us to confirm (or question) previously published data concerning pain in patients with these conditions. Moreover, because FSHD is a progressive disease, it is possible that the onset of pain, and the severity of pain once it develops, is related to a patient’s age. This study sought to address the need for more information about the nature and scope of pain in persons with FSHD and myotonic muscular dystrophy


            Retrospective, cross sectional survey performed using a community-based survey.  Participants were recruited from the NIH-funded National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members (n=296); the University of Washington NMD Clinic list (n=87); the Quality of Life Pediatric Survey Study (n=8); and four participants who independently contacted study personnel. A total of 296 potential subjects with MMD or FSHD contacted us. Of these, 235 (93%) completed and returned a mail survey questionnaire on the nature and scope of their pain.  The survey included questions asking about demographic information, NMD-related information, pain intensity, pain interference, pain location, and pain treatments.  All participants provided basic demographic information about their gender, age, race/ethnicity, educational level, marital and employment status.  They also provided information about their NMD diagnosis, including approximate date of diagnosis, type of physician who made the diagnosis, whether or not they had received a DNA confirmation of diagnosis, and their use of assistive devices for ambulation.

            Average pain intensity over the past week was assessed using an 11-point numerical rating scale (0=”no pain” to 10=”pain as bad as could be”) taken from the Grading of Chronic Pain scale (GCP).  Pain interference with daily activities was assessed using a 12-item interference scale adapted from the Brief Pain Inventory Pain Interference scale (BPI).19  Participants were asked to indicate whether or not they experience bothersome pain in one or more of 17 specific body sites (head, neck, shoulders, upper back, lower back, arms, elbows, wrists, hands, buttocks, hips, chest, abdomen/pelvis, legs, knees, ankles and feet).  Participants were asked to indicate if they were currently using or had ever used any of 25 specific pain treatments (physical therapy, nerve blocks, biofeedback/relaxation training, acupuncture, magnets, massage, hypnosis, counseling/psychotherapy, mexiletine, neurontin, tricyclic antidepressants, narcotics/opioids, acetaminophen, aspirin/ibuprofen, valium, tegretol, baclofen, TENS units, anticonvulsants, chiropractic adjustments, heat, ice, marijuana, strengthening exercises or range of motion exercises). 


            More individuals with FSHD (82%) than with MMD (60%) reported pain.  The most frequency pain sites for both diagnostic groups were lower back (66% MMD, 74% FSHD) and legs (60% MMD, 72% FSHD).  Moreover, the average pain severity reported in patients with FSHD in our sample (4.40 out of 10 in the current sample) and percent of patients with FSHD who report severe pain (23% in the current sample) also replicate previous findings.   These pain problems are chronic with a mean duration of pain being 11-13 years in our samples.  This finding, when considered in light of both the high frequency of pain in general, and the existence of subgroups of patients (about 25% in both samples) who report severe pain, underscores the need to identify and provide effective pain treatments for patients with these neuromuscular diseases.

            Both FSHD and MMD patients endorsed generally similar levels of interference of pain with functioning, although there was a slight trend for patients with MMD (range of interference ratings, 2.14 to 4.17/10) to report higher levels of interference with some activities than patients with FSHD (range, 1.14 to 3.65/10).  Pain was reported to have a moderate degree (3.73 and 3.53/10) of interference with enjoyment of life.  Moreover, the strength of the associations found between pain severity and interference with the life activities tended to be strong (correlation coefficients greater than .50 for six of the 12 activities; the correlation coefficient was never less than .30).  Modern biopsychosocial pain rehabilitation treatments focus not only on the pain itself, but also on the extent to which pain interferes with function. The significant pain interference reported by the patients in this study, when considered in light of the multi-domain focus of contemporary pain treatments, raises the possibility that patients with neuromuscular disease and chronic pain might benefit from pain rehabilitation approaches. 

            Overall, the sites of pain reported by these patients reflect the body areas that are commonly affected by these MDs (e.g., low back and legs as most common, chest, buttocks, and head as relatively less common). The most frequent pain site for both diagnostic groups was the low back.  This reflects the fact that low back pain is a common site of pain in the able-bodied adult population. In both FSHD and MMD the degree of back pain may be exacerbated by the fact that the trunk and neck flexors are among the weakest muscle groups in both of these disorders.  Moreover, in both diseases there is a significant imbalance between the extensors and flexors of the neck and the trunk.    As the individuals become weaker, the biomechanical stresses are increased and pain may become more pronounced.  This is supported by the fact that subjects with FSHD reported a significantly older age at which pain began in their hands and ankles compared to the subjects with MMD. 

            No single treatment for pain has been shown to be widely effective for subjects with FSHD and MMD.  No treatment was currently used by more than 46% of all of the patients reporting pain, or by more than 42% of the patients reporting severe pain.  The most common treatments were ibuprophen or aspirin (used by 46% of patients with pain), acetaminophen (used by 34%), and strengthening exercises (used by 29%).  Of those treatments that had been tried, the most effective (rated as providing at least 5/10 relief) were ibuprophen/aspirin, opioids, massage, chiropractic manipulation, nerve blocks, heat and marijuana.  However, it should also be noted that many of these treatments also have significant drawbacks.  For example, opioids, which were rated as the most effective (6.49/10) in this sample, had been tried by 25% of the sample, but were only currently being used by 8% of the sample.  This data suggests that the pain relief gained from the opioids did not outweigh their side effects (grogginess and constipation) when taken at the doses required to provide substantial relief.  Similarly, marijuana, although reported to be highly effective (6.00/10), was still used by only a little over half of the patients who had tried it (4% of the sample using, 7% had tried).  The significant side effects (such as decreased motivation) and significant problems with access may decrease the desirability of this treatment.   The other treatments that were rated as being relatively highly effective tend be short lasting.  This may explain the fact that many of the patients who had ever tried massage, chiropractic manipulation, and nerve blocks no longer receive these treatments.  The only treatment that was relatively highly effective and was still being used by a substantial number of patients (26%) was heat.  Perhaps this is because heat is an extremely accessible treatment (most people own a hot water bottle or heating pad) that has few, if any, negative side effects.  Overall, the findings suggest that that there remain too few options for pain relief for patients with MMD and FSHD and chronic pain.  There is a substantial need for the development of effective and long-lasting pain treatments for persons with NMD and FSHD that can be made easily available and that have few negative side effects.

            Pain is likely related, at least in part, to fatigue. Our results are consistent with a recent study of NMD patients that included 139 subjects with FSHD and 322 subjects with MMD.   Severe fatigue was reported by 61-74% of these patients and the severity of the fatigue was correlated with an increase in the number of problems with physical functioning, mental health, and bodily pain.  Although the causal relationship is not clear, it is likely that physical disability leads to both pain and fatigue conjointly, but chronic pain would certainly worsen fatigue symptoms.


            The findings from this study indicate that pain is a common problem in both FSHD and MMD, with the majority of adults with these conditions reporting pain.  The most frequent pain sites for both diagnostic groups were lower back and legs.  Significant differences between diagnostic groups in frequency of pain at specific sites were found in shoulders, hips and feet, with participants with FSHD reporting pain more often in their shoulders and hips, and participants with MMD reporting pain more often in their feet and hands.  These findings highlight the need to identify and provide effective pain treatments for patients with FSHD and MMD.  Future work needs to address chronic pain in a variety of other neuromuscular diseases.

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Health Information About Facioscapulohumeral Muscular Dystrophy (FSHD)

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The information on this website is provided for general informational and educational purposes only.  The FSH Society and this website do not provide medical advice or recommendations.  Licensed physicians and other medical professionals who are familiar with an individual’s specific health situation should be consulted for diagnosis and treatment of Facioscapulohumeral Muscular Dystrophy and any other medical conditions.  Neither the FSH Society nor any contributor to this website can be liable or responsible for any result derived from the use of this material. 
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