Frequency and satisfaction of conventional and complementary or alternative therapies for neuromuscular disorders.

BACKGROUND: Causal therapies are not yet available for most neuromuscular diseases. Additionally, data on the use of complementary or alternative therapies (CAM) in patients groups with a variety of different neuromuscular diseases are rare. This retrospective cross-sectional study aims to record the frequency of use and satisfaction of conventional therapies and complementary or alternative medicine (CAM) in patients with neuromuscular disorders in order to compare them afterwards. METHODS: Patients from the University of Leipzig (Department and Outpatient Department of Neurology), the Friedrich-Baur-Institute (Department of Neurology), the Hoher Meißner Clinic (Department of Neurology) and the German Society for Muscular Diseases (DGM e.V.) were included. The focus of this study has been on patients with chronic neuromuscular diseases. Our data are based on standardised questionnaires in analogue form from three German neuromuscular centres and in digital form from the official website of the German Society for Muscular Diseases. Therapy satisfaction was assessed with the Patient Evaluation of Global Response (PEGR) ranking scale (very satisfactory + 2 to very unsatisfactory - 2). RESULTS: Of 192 questionnaires analysed, the most common diagnoses were spinal muscular atrophy (n = 42; 21.9%), muscular dystrophies (n = 41; 21.4%) and myotonic dystrophies (n = 38; 19.8%). More than half (n = 112; 58.3%) used both conventional and CAM treatments. Physiotherapy (n = 165) was used most frequently within all treatments with conventional manual (PEGR 1.25, p = 0.013; CI 95%) and aquatic therapy (PEGR 1.3, p = 0.038) showing significantly higher satisfaction compared to therapy on training equipment. Less-used therapies such as psychotherapy (n = 53; PEGR 1.2) were also satisfactory. Within CAM, massages (n = 96) were the most reported and meditation (PEGR 1.5) was best rated. Massage therapy was significantly more satisfactory than progressive muscle relaxation (p = 0.003) and chiropractic treatment (p = 0.036). Chiropractic treatment (PEGR - 0.1) was rated most negatively. No significant differences were found between the group of conventional therapies and CAM users regarding social and disease-dependent factors. CONCLUSIONS: Treatment with conventional therapy (manual, aquatic therapy) and some CAM therapies can be recommended if adequately indicated.

Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN gene, leading to progressive muscular weakness, atrophy and so far neglected musculoskeletal pain. This study is the first to characterize nociceptive pain in patients living with SMA type 3 by assessing whether muscle pain is associated with alterations in muscle strength, function, stiffness, frequency, decrement, relaxation, or creep. METHODS: We performed a cross-sectional pilot study on 20 SMA3 patients. We evaluated motor function and muscle strength (dynamometry, quick motor function test and 6-min-walk test), nociceptive pain (pressure algometer evaluating muscular pressure pain threshold (PPT)) and non-invasive measurement of muscle stiffness, frequency, decrement, relaxation, or creep (myotonometry with the MyotonPro®). For statistical analysis, we used t tests, Mann-Whitney U tests and linear regression. RESULTS: Significantly more women than men reported musculoskeletal pain (p = 0.003). A lower score in dynamometry was associated with lower scores in PPT in all extremities reflecting a higher sensitivity of these muscles to pressure. We did not find significant correlations between the PPT values and the MyotonPro values in the corresponding muscles. Assessments of PPT before and after the 6-min walk test did not show clinical meaningful changes. Besides nociceptive pain, fatigue was prevalent in 50% and pain in 55% of the patients. CONCLUSIONS: Muscle pain in SMA3 is associated with muscular weakness in the arms and legs, but not with changes in muscular stiffness, frequency, decrement, relaxation, or creep. This shows that muscle pain in SMA3 is mainly caused by changes in the dysbalanced musculoskeletal system due to muscle weakness.

[Physiotherapeutic Care of Adults with Neuromuscular Diseases - an Online Survey of Physiotherapists in the City Area of Munich]. / Physiotherapeutische Versorgung von Erwachsenen mit Neuromuskulären Erkrankungen ­ Online-Befragung von Physiotherapeut*innen im Stadtgebiet München.

BACKGROUND AND AIM: Physiotherapy has a key role in the symptomatic treatment of neuromuscular disorders (NMD). In the health care of adults with NMD, there may be intransparency of physiotherapy processes due, among other factors, to disciplinary interfaces. This study describes the current state of physiotherapeutic care for adults with NMD and examines the needs of physiotherapists in improving the quality of physiotherapeutic care. METHODS: An online survey of physiotherapists in the city area of Munich was carried out using Lime Survey. The survey link was distributed in both inpatient and outpatient settings and with use of the snowball principle. The data on the closed and open questions were accordingly evaluated quantitatively descriptively and content-analytically. RESULTS: A total of 137 physiotherapists participated in the online survey, and information from 124 survey participants was included in the analyses. 62.4% (n=58) of them were involved in the treatment of adults with NMD. The most common physiotherapy prescription was "Physiotherapy for the treatment of central movement disorders" (KG-ZNS) (82.9%; n=34). Home visits and assistive devices were ranked as the most effective interventions. 69.1% (n=56) of survey participants would like more information on NMD, primarily in the form of e-learning (24.0%; n=37) and professional articles (21.4%; n=33). In addition to the identified need for information, there were requests for more in-depth interprofessional communication and increased time resources in physiotherapeutic treatment. CONCLUSION: The wide range of physiotherapeutic measures applied pursues, among other things, the goal of helping patients maintain their independence and is considered to be of great benefit in the care of adult patients with NMD. It is important to address the identified desire and need for information expressed by physiotherapists on the subject of NMD in the preferred form by means of low-threshold offers. The interprofessional communication should be intensified and time-related aspects should be considered in the issuing of prescriptions as well as with regard to a possible blank prescription option in the future, in order to achieve positive effects in the physiotherapeutic care of adult patients with NMD.

[Nationwide Inventory of the Health Literacy Construct from the Perspective of the Profession Physiotherapy]. / Bundesweite Bestandsaufnahme zum Konstrukt Gesundheitskompetenz aus der Perspektive der Profession Physiotherapie.

In a nationwide online survey of professional physiotherapists PT, the role of health literacy in the professional self-image of physiotherapists was investigated. The construct of health literacy was considered by PT to be important in working with patients. A lack of time resources was mentioned by the majority as an inhibiting factor with regard to dealing with the topic and its integration into everyday clinical practice. Specialist articles and further training courses on the subject of health literacy are necessary in addition to being anchored in training and studies in order to improve knowledge of health literacy and its relevance in the care of patients by PT.

The impact of interrupting enzyme replacement therapy in late-onset Pompe disease.

BACKGROUND: Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to progressive weakness of locomotor and respiratory muscles. Enzyme replacement therapy (ERT), administered every second week, has been proven to slow down disease progression and stabilize pulmonary function. Due to the COVID-19 pandemic in Germany, ERT was interrupted at our centre for 29 days. As reports on ERT discontinuation in LOPD are rare, our study aimed to analyse the impact of ERT interruption on the change in clinical outcome. METHODS: We performed a prospective cohort study in 12 LOPD patients. Clinical assessments were performed after ERT interruption and after the next three consecutive infusions. We assessed motor function by muscle strength testing, a 6-minute-walk-test, pulmonary function tests, and adverse events. For statistical analysis, an estimated baseline was calculated based on the individual yearly decline. RESULTS: The mean time of ERT interruption was 49.42 days (SD ± 12.54). During ERT interruption, seven patients reported 14 adverse events and two of them were severe. Frequent symptoms were reduced muscle endurance/increased muscle fatigability and shortness of breath/worsening of breathing impairment. After ERT interruption, significant deterioration was found for MIP%pred (p = 0.026) and MRC%pred, as well as a trend to clinical deterioration in FVC%pred and the 6MWT%pred. CONCLUSION: Interruption of ERT was associated with a deterioration in the core clinical outcome measures. Therefore, an interruption of ERT should be kept as short as possible.

Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders.

The aim of this study was to assess whether different cut-offs of maximum inspiratory and/or expiratory pressure (MIP/MEP) are valuable screening parameters to detect restrictive respiratory insufficiency. Spirometry, MIP, MEP and capillary blood gas analysis were obtained from patients with confirmed neuromuscular disorders. We calculated regression analysis, sensitivity, specificity and predictive values. We enrolled 29 patients with myotonic dystrophy type 1 (DM1), 19 with late-onset Pompe disease (LOPD), and 24 with spinal muscular atrophy type 3. Moderate to high reduction in manometry was exclusively found in LOPD and DM1 patients. Significant associations were found between manometry and spirometry. Highest adjusted r2 was found for MIP % predicted and forced vital capacity (FVC) % predicted. Manometry predicted abnormal FVC and forced expiratory volume 1 s (FEV1). MEP > 80 cmH2O predicted normal FVC and FEV1, regardless of cut-off values. MIP and MEP did not positively predict alterations in capillary blood gas analysis. Disease-specific cut-offs of manometry did not increase the prediction rate of patients with abnormal FVC and FEV1. Predicted values should be calculated for a more comprehensive interpretation of manometry results. MIP and MEP can serve as a screening parameter for patients with neuromuscular disorders, but parallel testing of both MIP and MEP needs to be performed to increase the positive prediction probability across disease groups.