Quality of life and support needs in children, adolescents, and young adults with facioscapulohumeral dystrophy, a mixed-method study.

BACKGROUND AND OBJECTIVES: Quality of life (QoL) in children with facioscapulohumeral dystrophy (FSHD) seems plausible decreased. Little is known about factors influencing QoL in children with FSHD. Our objective is to explore factors contributing to the QoL of children, adolescents, and young adults with FSHD, to describe how they experience life with FSHD, and to report their support needs. METHODS: We performed a mixed-method study with individual age-appropriate semi-structured interviews assessing QoL in children, adolescents, and young adults with FSHD and their parents. To characterize the sample, quantitative data on QoL, pain, fatigue, and participation were collected. Interview data was analyzed using a thematic analysis. RESULTS: Fourteen patients participated (age between 9 and 26 years old, eight males and six females). The degree of FSHD severity, as indicated by the FSHD-score, did not correlate with QoL. Older children had a lower QoL than younger children. Children and adolescents strived for normality regardless of physical discomfort. Phenotypical features of FSHD led to insecurity aggravated by hurtful comments of others. The unpredictability of disease progression and its implications for career and parenthood choices led to a generalized feeling of uncertainty about the future. Support was found within family and friends. Participants expressed a need for peer support and psychological support as well as recommending it to others. DISCUSSION: Quality of life in childhood FSHD is diminished caused by their physical limitations, altered appearance, fear of social rejection, and uncertainty of the disease progression in the future. A fear of social rejection most likely contributes to striving for normality regardless of physical discomfort. Support should be focused on acceptance and coping with hurtful comments. It should preferably be individualized, easily accessible and not offered as therapy but rather as tutoring for children.

Living with facioscapulohumeral muscular dystrophy during the first two COVID-19 outbreaks: a repeated patient survey in the Netherlands.

BACKGROUND: Patients with facioscapulohumeral dystrophy (FSHD) suffer from slowly progressive muscle weakness. Approximately 20% of FSHD patients end up wheelchair-dependent. FSHD patients benefit from physical activity to maintain their muscle strength as much as possible. The impact of the COVID-19 pandemic on the health of FSHD patients was unknown. OBJECTIVE: This study assessed changes in daily care received, perceived psychosocial stress, and worsening of FSHD complaints in 2020. Furthermore, we compared COVID-19 infection incidence and severity of symptoms between FSHD patients and non-FSHD housemates. METHODS: Three online survey rounds were sent out to all adult participants of the Dutch FSHD registry regarding daily care received, perceived psychosocial stress, COVID-19 infection rate, and COVID-19 symptoms severity. They also included COVID-19-related questions regarding the participants' housemates, which served as control group. RESULTS: Participation rate was 210 (61%), 186 (54%), and 205 (59%) for survey 1, 2, and 3, respectively. Care reduction was reported by 42.7%, 40%, and 28.8% of the participants in the respective surveys. Perceived psychosocial stress increased in 44%, 30%, and 40% of the participants. Compared to the 197 non-FSHD housemates, the 213 FSHD patients reported more possibly COVID-19-related symptoms (27% vs. 39%, p = 0.017) of mostly minimal severity (63%). No difference in (possible) COVID-19 infection incidence rates was found (2.0% vs. 2.8%, p = 0.527). CONCLUSIONS: The COVID-19 pandemic negatively impacted care received and increased perceived psychosocial stress in FSHD patients. However, COVID-19 infection incidence in FSHD patients was similar to their non-FSHD housemates.

Correlations between radiographic spinopelvic parameters and health-related quality of life: A prospective evaluation of 37 patients with facioscapulohumeral muscular dystrophy.

OBJECTIVE: The purpose of this study was to evaluate the relationship between spinopelvic parameters and health-related quality of life. METHODS: Patients with Facioscapulohumeral muscular dystrophy (FSHD) were asked to volunteer to participate in this study from April 2018 to December 2019. Patient data, including age, sex, body mass index (BMI), and duration of the diagnosis of FSHD were obtained. Short Form (SF-36) questionnaire was completed for all patients. All patients underwent lateral radiography of the whole spine. The radiographic parameters examined were pelvic tilt (PT), pelvic incidence (PI), sacral slope (SS), lumbar lordosis (LL), cervical lordosis (CL), T1 spinopelvic inclination (T1 SPI), thoracic kyphosis (TK), Pelvic incidence- lumbar lordosis (PI-LL) and sagittal vertical axis (SVA). RESULTS: Thirty-seven patients (16 females and 21 males) were included in the study, with a mean age of 39.1 years. The mean duration of diagnosis was 13.5 ± 11.4 years and mean BMI was 24.2 kg/m2. Physical composite score (PCS) was 38.7 and mental composite score (MCS) 60.8 detected. Radiographic analyses included the following: the mean PT was 9.1°, PI 52.1°, SS 43.5°, LL 67.9°, CL 9.8°, T1 SPI -2.5°, TK 23.1°, SVA 37.6 mm. PI-LL was -13.1°. We identified 31 patients with match (left) PI-LL and six patients with mismatch (right) PI-LL. CONCLUSION: Hyperlordosis inlumbar spine, hypolordosis in cervical spine and negative sagittal balance were the most common spinal misalignments in patients with FSHD. These patients have lower composite PCS than composite MCS. There was a significantly negative correlation between LL, PI-LL and PCS. LEVEL OF EVIDENCE: Level IV Cross-sectional study.

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

INTRODUCTION: Earlier 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. METHODS: We analyzed patient reported outcome measures collected through the U.K. FSHD Patient Registry. RESULTS: Of 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. DISCUSSION: Our 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.

It's not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy.

PURPOSE: Little is known about the illness experiences of people with Facioscapulohumeral Muscular Dystrophy (FSHD). The aim of this study was to provide insight into the illness experiences of people with FSHD in order to tailor rehabilitation programs to individual needs and expectations. METHODS: Twenty-five semi-structured interviews were conducted with people with FSHD. The interviews were audiotaped, transcribed and member checked. Computerized (MAXqda) and manual techniques were used for thematic data analysis. RESULTS: Intra- as well as extra-individual aspects play a role in the illness experiences of people with FSHD. Integrating the consequences of the diagnosis and symptoms, coping with heredity and progenity, adjusting to a decreasing independence, and the accompanying changing relationship with one's partner, are mentioned as intra-individual aspects. As extra-individual factors are the responses of the social environment, which was mentioned as well as used assistive devices, and maintaining or giving up work. CONCLUSIONS: Better understanding of the individual illness experiences, cognitions, and social context of people with FSHD can give health professionals tools to improve their care and give researchers direction for future studies to evaluate healthcare improvements from a holistic, patient-centred perspective. Implications for Rehabilitation FSHD has a major impact on people's lives. Besides the physical consequences, issues such as heredity, progenity, changing (intimate) relationships, social interactions and work should be addressed by rehabilitation professionals. Dependent on the timing of the diagnosis (early or later in life) people with FSHD could, in addition to medical consultation and physical therapy, profit from support by a social worker, occupational therapist and/or genetic Counselor for the above-mentioned themes to be addressed more extensively. It is relevant for rehabilitation professionals to become familiar with the personal characteristics and social circumstances of the patient before communicating the diagnosis and prognosis in order to individually tailor the content of the communication.

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations. Higher levels of medication adherence lead to better health outcomes, especially important to patients with DM and FSHD because of their multisystem manifestations and complexity of care. However, medication adherence has not previously been studied in a large cohort of DM type 1 (DM1), DM type 2 (DM2), and FSHD patients. The purpose of our study was to survey medication adherence and disease manifestations in patients enrolled in the NIH-supported National DM and FSHD Registry. The study was completed by 110 DM1, 49 DM2, and 193 FSHD patients. Notable comorbidities were hypertension in FSHD (44 %) and DM2 (37 %), gastroesophageal reflux disease in DM1 (24 %) and DM2 (31 %) and arrhythmias (29 %) and thyroid disease (20 %) in DM1. Each group reported high levels of adherence based on regimen complexity, medication costs, health literacy, side effect profile, and their beliefs about treatment. Only dysphagia in DM1 was reported to significantly impact medication adherence. Approximately 35 % of study patients reported polypharmacy (taking 6 or more medications). Of the patients with polypharmacy, the DM1 cohort was significantly younger (mean 55.0 years) compared to DM2 (59.0 years) and FSHD (63.2 years), and had shorter disease duration (mean 26 years) compared to FSHD (26.8 years) and DM2 (34.8 years). Future research is needed to assess techniques to ease pill swallowing in DM1 and to monitor polypharmacy and potential drug interactions in DM and FSHD.

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD; OMIM 158900 & 158901) is a progressive skeletal muscle dystrophy, characterized by an autosomal dominant inheritance pattern. One of the major unsolved questions in FSHD is the marked clinical heterogeneity, ranging from asymptomatic individuals to severely affected patients with an early onset. An estimated 10% of FSHD patients have an early onset (onset before 10 years of age) and are traditionally classified as infantile FSHD. This subgroup is regarded as severely affected and extra-muscular symptoms, such as hearing loss and retinopathy, are frequently described. However, information on the prevalence, natural history and clinical management of early onset FSHD is currently lacking, thereby hampering adequate patient counselling and management. Therefore, a population-based prospective cohort study on FSHD in children is highly needed. METHODS/DESIGN: This explorative study aims to recruit all children (aged 0-17 years) with a genetically confirmed diagnosis of FSHD in The Netherlands. The children will be assessed at baseline and at 2-year follow-up. The general aim of the study is the description of the clinical features and genetic characteristics of this paediatric cohort. The primary outcome is the motor function as measured by the Motor Function Measure. Secondary outcomes include quantitative and qualitative description of the clinical phenotype, muscle imaging, genotyping and prevalence estimations. The ultimate objective will be a thorough description of the natural history, predictors of disease severity and quality of life in children with FSHD. DISCUSSION: The results of this population-based study are vital for adequate patient management and clinical trial-readiness. Furthermore, this study is expected to provide additional insight in the epigenetic and environmental disease modifying factors. In addition to improve counselling, this could contribute to unravelling the aetiology of FSHD. TRIAL REGISTRATION: clinicaltrials.gov NCT02625662.

Prevalence and correlates of apathy in myotonic dystrophy type 1.

BACKGROUND: Apathy in DM1 has long been acknowledged in clinical practice. However, a major drawback is that the concept has been only sparsely explored in previous specific studies. This study aimed to determine the prevalence of apathy in myotonic dystrophy (DM1), to compare it with facioscapulohumeral dystrophy (FSHD) patients and normal healthy controls, and explore its relationship to psychopathological features and cognitive function. METHODS: Levels of apathy in 38 DM1 patients with adult phenotypes were compared with 19 patients with FSHD and 20 matched controls. Patient participants were consecutively recruited, regarding their interdisciplinary annual evaluation at the neuromuscular pathology reference center (Institute of Myology, Paris, France), within an 18-month period. Additional measurements included motor disability, fatigue, depression, anxiety, and cognitive abilities. Inter-group comparisons were performed using non-parametric Kruskal-Wallis tests and Mann-Whitney U Tests. Intra-group comparisons were carried out with the Wilcoxon Signed rank and Friedman tests. Also, Spearman's correlations were used to assess the strength of linear relationships between pairs of variables. The significance level was set at 0.05. RESULTS: Global score of apathy was significantly higher in DM1 patients than in FSHD patients (p < 0.01) and in controls (p < 0.001). Sixteen of 38 DM1 patients (39.5 %) met the criterion for apathy, contrasting with only 4 of the 19 (21.1 %) FSHD patients. No control subject was apathetic. Moreover, apathy in DM1 patients was negatively correlated to MMSE (r = -.46, p < .05) and Stroop Word (r = -.55, p < .01) scores, but not with age, educational level, disease duration, CTG repeats, motor functional disability, fatigue, depression, and anxiety. CONCLUSIONS: Apathy is a frequent symptom in DM1 (almost 40 %). It is more prevalent than in a similarly disabled group of patients with FSHD and in controls. Results also show that apathy in DM1 is independent of the psychopathological domain, fatigue, age, and motor disability, but associated to general cognitive status. These results altogether could suggest a central cause for apathy in DM1 rather than an adjustment process to cope with the progressive and debilitating nature of the disease. Data emphasize the importance to evaluate this symptom in routine clinical management of DM1 patients.

Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: an RCT.

OBJECTIVE: To investigate the effect of aerobic exercise training (AET) and cognitive-behavioral therapy (CBT) on chronic fatigue in patients with facioscapulohumeral muscular dystrophy (FSHD). METHODS: We performed a multicenter, assessor-blinded, randomized clinical trial (RCT). Fifty-seven patients with FSHD type 1 with severe chronic fatigue were randomly allocated to AET, CBT, or usual care (UC). Outcomes were assessed before treatment, following 16 weeks of intervention, and after a 12-week follow-up. A linear mixed model for repeated measurements was used to study the estimated group differences. RESULTS: Following treatment, both the AET (28 participants) and CBT (25 participants) intervention groups had less fatigue relative to the UC group (24 participants), with a difference of -9.1 for AET (95% confidence interval [CI] -12.4 to -5.8) and -13.3 for CBT (95% CI -16.5 to -10.2). These beneficial effects lasted through follow-up, with a difference of -8.2 for AET (95% CI -12.4 to -5.8) and -10.2 for CBT (95% CI -14.0 to -6.3). The patients who received CBT had an increase in registered and experienced physical activity, sleep quality, and social participation. The patients who received AET had an increase in registered physical activity only. The increase in registered physical activity in both groups and the improvement in social participation following CBT were still present at follow-up. CONCLUSIONS: This RCT shows that AET and CBT can ameliorate chronic fatigue in patients with FSHD. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that, in patients with FSHD type 1 and severe chronic fatigue, AET or CBT reduces the severity of chronic fatigue.

Pain location and intensity impacts function in persons with myotonic dystrophy type 1 and facioscapulohumeral dystrophy with chronic pain.

INTRODUCTION: We examined the effects of pain site and intensity on function in patients with myotonic dystrophy type 1 (DM1) and facioscapulohumeral muscular dystrophy (FSHD) and chronic pain. METHODS: Questionnaires assessing pain sites, pain extent (number of sites), pain intensity, and pain interference were completed by 182 individuals with DM1 (43%) or FSHD (57%) and chronic pain. RESULTS: There was a positive association between pain extent and intensity with pain interference, and a negative association with psychological functioning in both DM1 and FSHD. Pain intensity at specific sites had differential impact beyond the effects of pain intensity alone. Head pain intensity independently affected psychological functioning, whereas leg, foot, hip, and knee pain contributed independently to the prediction of pain interference. CONCLUSIONS: Pain site and intensity differentially modulates the effect of chronic pain on function in DM1 and FSHD patients. Researchers and clinicians should consider these factors when assessing and treating pain.

Patient-identified disease burden in facioscapulohumeral muscular dystrophy.

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 a three-investigator consensus approach. RESULTS: One thousand three hundred seventy-five quotes were obtained through 20 patient interviews. Two hundred fifty-one 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 underrecognized, that play a key role in FSHD disease burden.

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011.

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle involvement. In general, FSHD typically presents before age 20 years. Usually, FSHD muscle involvement starts in the face and then progresses to the shoulder girdle, the humeral muscles and the abdominal muscles, and then the anterolateral compartment of the leg. Disease severity is highly variable and progression is very slow. About 20% of FSHD patients become wheelchair-bound. Lifespan is not shortened. The diagnosis of FSHD is based on a genetic test by which a deletion of 3.3kb DNA repeats (named D4Z4 and mapping to the subtelomeric region of chromosome 4q35) is identified. The progressive pattern of FSHD requires that the severity of symptoms as well as their physical, social and psychological impact be evaluated on a regular basis. A yearly assessment is recommended. Multidisciplinary management of FSHD--consisting of a combination of genetic counselling, functional assessment, an assessment by a physical therapist, prescription of symptomatic therapies and prevention of known complications of this disease--is required. Prescription of physical therapy sessions and orthopedic appliances are to be adapted to the patient's deficiencies and contractures.

Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial.

BACKGROUND: In facioscapulohumeral dystrophy (FSHD) muscle function is impaired and declines over time. Currently there is no effective treatment available to slow down this decline. We have previously reported that loss of muscle strength contributes to chronic fatigue through a decreased level of physical activity, while fatigue and physical inactivity both determine loss of societal participation. To decrease chronic fatigue, two distinctly different therapeutic approaches can be proposed: aerobic exercise training (AET) to improve physical capacity and cognitive behavioural therapy (CBT) to stimulate an active life-style yet avoiding excessive physical strain. The primary aim of the FACTS-2-FSHD (acronym for Fitness And Cognitive behavioural TherapieS/for Fatigue and ACTivitieS in FSHD) trial is to study the effect of AET and CBT on the reduction of chronic fatigue as assessed with the Checklist Individual Strength subscale fatigue (CIS-fatigue) in patients with FSHD. Additionally, possible working mechanisms and the effects on various secondary outcome measures at all levels of the International Classification of Functioning, Disability and Health (ICF) are evaluated. METHODS/DESIGN: A multi-centre, assessor-blinded, randomized controlled trial is conducted. A sample of 75 FSHD patients with severe chronic fatigue (CIS-fatigue > or = 35) will be recruited and randomized to one of three groups: (1) AET + usual care, (2) CBT + usual care or (3) usual care alone, which consists of no therapy at all or occasional (conventional) physical therapy. After an intervention period of 16 weeks and a follow-up of 3 months, the third (control) group will as yet be randomized to either AET or CBT (approximately 7 months after inclusion). Outcomes will be assessed at baseline, immediately post intervention and at 3 and 6 months follow up. DISCUSSION: The FACTS-2-FSHD study is the first theory-based randomized clinical trial which evaluates the effect and the maintenance of effects of AET and CBT on the reduction of chronic fatigue in patients with FSHD. The interventions are based on a theoretical model of chronic fatigue in patients with FSHD. The study will provide a unique set of data with which the relationships between outcome measures at all levels of the ICF could be assessed. TRIAL REGISTRATION: Dutch Trial Register, NTR1447.

Health-related quality of life in ALS, myasthenia gravis and facioscapulohumeral muscular dystrophy.

Neuromuscular disorders are rare diseases with a chronic and debilitating course. Unfortunately, data on the health-related quality of life (HRQoL) in neuromuscular diseases are limited. The objective of this multicentre cross-sectional study was to compare the HRQoL in patients with amyotrophic lateral sclerosis (ALS), facioscapulohumeral muscular dystrophy (FSHD) and myasthenia gravis (MG) and to identify the determinants of the HRQoL in these diseases. We recruited 91 consecutive outpatients with ALS (n = 37), FSHD (n = 17) or MG (n = 37) in seven specialized German health centres. The HRQoL was determined using the 36-Item Short Form Health Survey (SF-36) and the EuroQol (EQ-5D). Independent predictors of the HRQoL were identified using multiple regression analysis. The HRQoL in all domains of the SF-36, except for bodily pain, was significantly reduced. The domains related to physical health (physical functioning, physical role) were most affected. The EQ-5D-index score was most reduced in ALS (0.54) and least reduced in MG (0.89). Independent predictors of a reduced HRQoL were disease severity and depression in ALS, and disease severity, depression, older age and increased body-mass index in MG. The patterns of HRQoL-impairment in neuromuscular disorders share some common features, such as a more pronounced reduction in the HRQoL related to physical health, but there are a number of disease-specific features that should be considered in outcomes of clinical trials and treatment guidelines. In addition to the treatment of motor symptoms, greater attention should be paid to the treatment of depression, which was found to be among the independent predictors of the HRQoL in ALS and MG.

Quality of life and pain in patients with facioscapulohumeral muscular dystrophy.

The aim of this study was to assess quality of life (QoL) and evaluate the occurrence and characteristics of pain in facioscapulohumeral muscular dystrophy (FSHD) patients. No study has yet assessed QoL in a large group of FSHD patients and, overall, few studies have assessed pain in neuromuscular diseases. We performed a prospective study using a multidimensional protocol including: clinical (according to the Clinical Severity Scale Rev1); genetic (p13E-11 EcoRI fragments Rev1); QoL (Short Form-36); pain (Visual Analog Scale and Portenoy-6 questions); and depression (Beck Depression Inventory) assessment. QoL measures of FSHD were compared with those of Italian norms. Moreover, we correlated QoL and pain measurements with clinical findings. Sixty-five patients were enrolled in the study. QoL was statistically significantly reduced with respect to the Italian normative sample, mainly in physical domains. Our study demonstrated that pain is frequent in FSHD patients. More than half of the patients complained of at least moderate pain. Women complained of slightly higher levels of deterioration in the emotional aspects of QoL than men. Clinical pattern (as assessed by Clinical Severity Scale) was closely related to physical QoL domains: the higher the clinical involvement, the more severe the QoL deterioration. This study provided information that may be crucial in clinical practice: pain may be a relevant aspect in FSHD patients, and prevention strategies or relevant therapies should be considered as appropriate. Moreover, we must pay more attention to gender differences: women can suffer far greater deterioration in the emotional aspects of QoL. Further multidimensional observations are needed. Muscle Nerve 40: 200-205, 2009.

Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy.

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. CONCLUSIONS: The findings indicate that pain is a more common problem in persons with FSHD than in persons with MMD, although it is common in both populations. In addition, these pain problems are chronic, underscoring the need to identify and provide effective pain treatments for patients with these neuromuscular diseases.

The development of a model of fatigue in neuromuscular disorders: a longitudinal study.

BACKGROUND: Severe fatigue is reported by the majority of patients with three relatively common types of neuromuscular disorders. OBJECTIVE: This study aimed to identify predictors of fatigue in a longitudinal study and to develop a model of fatigue in patients with three neuromuscular disorders. METHODS: One hundred ninety-eight patients [60 facioscapulohumeral muscular dystrophy (FSHD), 70 adult-onset myotonic dystrophy (MD), and 68 hereditary motor and sensory neuropathy type I (HMSN-I) patients] were studied twice during an 18-month period. Fatigue severity was assessed by the Checklist Individual Strength. A multidimensional assessment method was used, including self-report questionnaires, a daily Self-Observation List, and physical activity (actometer). Muscle strength was determined using the Medical Research Council scale. Structural equation modeling was used to develop and test a model of factors contributing to the persistence of experienced fatigue. RESULTS: Muscle strength, self-reported physical activity, sleep disturbances, and pain at baseline contributed directly or indirectly to fatigue and impairment at follow-up. Lower muscle strength contributed to lower levels of physical activity, which, in turn, contributed to fatigue severity. The model showed excellent fit for the whole group of neuromuscular disorders. In FSHD, pain also contributed to physical activity. A model with the actometer as measurement for actual physical activity instead of self-report showed an excellent model fit in FSHD and HMSN but an insufficient fit in MD. CONCLUSION: The model of perpetuating factors for fatigue in FSHD and HMSN is different from the model in MD. The main difference is in physical (in)activity. These differences have implications for interventions based on these models.

Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I.

OBJECTIVES: To study the presence of psychiatric comorbidity assessed by the use of a structured clinical interview and self-reported questionnaires in a large sample of patients with adult-onset myotonic dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and hereditary motor and sensory neuropathy type I (HMSN-I), and to assess whether psychiatric comorbidity is related to fatigue severity and/or muscle strength. METHODS: In a cohort of 217 patients with a neuromuscular disorder (79 DM, 65 FSHD and 73 HMSN-I patients) overall psychiatric comorbidity was studied cross-sectionally with the structured clinical interview for DSM-IV axis I disorders. Self-reported psychopathology, fatigue severity and muscle strength were assessed with the Beck Depression Inventory, Symptom Checklist-90, General Health Questionnaire-12, Checklist Individual Strength and muscle strength [Medical Research Council (MRC)-scale]. RESULTS: In all three neuromuscular disorders (DM, FSHD and HMSN), 10-12% of the patients met DSM IV clinical criteria for current psychiatric disorders. Lifetime psychiatric disorders were found in 32% of patients in all three patient groups. The most common psychiatric disorders were depression and phobias. A comparison of patients with and without current psychiatric disorder showed that fatigue severity and muscle strength (MRC) were not related to psychiatric comorbidity. CONCLUSION: Psychiatric disorders appear equally in patients with DM, FSHD and HMSN-I and are not related to fatigue or muscle strength in these patients.

Experienced and physiological fatigue in neuromuscular disorders.

OBJECTIVE: Fatigue has been described as a typical symptom of neurological diseases. It might be caused both by changes at the peripheral and at the central level. This study measured the level of experienced fatigue and physiological correlates of fatigue in three genetically defined neuromuscular disorders. METHODS: Sixty-five facioscapulohumeral dystrophy (FSHD), 79 classical myotonic dystrophy (DM), 73 hereditary motor and sensory neuropathy type I (HMSN) patients and 24 age-matched healthy controls made a 2-min sustained maximal voluntary contraction of the biceps brachii muscle. Experienced fatigue at the current moment was assessed with the abbreviated fatigue questionnaire just before the physiological measurement. Peripheral fatigue was quantified by comparing the amplitudes of an initial and a final stimulated force response during rest. Muscle fibre conduction velocity was determined from a 5-channel surface EMG recording in order to show peripheral changes during the contraction. Central aspects of fatigue were measured using superimposed electrical endplate stimulation. RESULTS: Patients showed an increased level of experienced fatigue. Total physiological and peripheral fatigue were smaller in patients compared to controls, and central fatigue was normal. The most interesting result of this study was the presence of a large central activation failure (CAF) in all groups of neuromuscular patients; they showed CAF values of 36-41% already directly at the start of sustained contraction, whereas the control group showed only 12%. CAF slightly correlated with the level of experienced fatigue just before the test. CONCLUSIONS: The cause of the large CAF in patients is unclear. Reduced concentration, motivation or effort can lead to lower central activation. In neuromuscular patients especially fear of physical activity or fear to damage the muscle or nerve tissue may contribute. Besides, also physiological feedback mechanisms or changes at the motocortical level may be a cause of reduced central activation. SIGNIFICANCE: For the clinician it is important to know that experienced fatigue is part of the clinical spectrum of neuromuscular patients. Besides, the weakness in these patients is aggravated by reduced central activation. Potentially, both problems could be subject of an intervention.