Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

BACKGROUND: The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases. A network of twenty collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. METHODS: Following the initial report on demographics, neuromuscular features and comorbidity (2020), we here present the data on social participation, previous and current treatments (medication, supplements, diet and rehabilitation) and limitations. Furthermore, the following questionnaires were used: Fatigue severity scale (FSS), WHO Disability Assessment Scale (DAS 2.0), health related quality of life (SF36) and International Physical Activity Questionnaire (IPAQ). RESULTS: Of 282 participants with confirmed diagnoses of muscle glycogenosis, 269 had GSD5. Of them 196 (73%) completed all questionnaires; for the others, the data were incomplete. The majority, 180 (67%) were currently working. Previous medical treatments included pain medication (23%) and rehabilitation treatment (60%). The carbohydrate-rich diet was reported to be beneficial for 68%, the low sucrose diet for 76% and the ketogenic diet for 88%. Almost all participants (93%) reported difficulties climbing stairs. The median FSS score was 5.22, indicating severe fatigue. The data from the WHODAS and IPAQ was not of sufficient quality to be interpreted. CONCLUSIONS: The EUROMAC registry have provided insight into the functional and social status of participants with GSD5: most participants are socially active despite limitations in physical and daily life activities. Regular physical activity and different dietary approaches may alleviate fatigue and pain.

A Randomized and Controlled Crossover Study Investigating the Improvement of Walking and Posture Functions in Chronic Stroke Patients Using HAL Exoskeleton - The HALESTRO Study (HAL-Exoskeleton STROke Study).

Background: The exoskeleton HAL (hybrid assistive limb) has proven to improve walking functions in spinal cord injury and chronic stroke patients when using it for body-weight supported treadmill training (BWSTT). Compared with other robotic devices, it offers the possibility to initiate movements actively. Previous studies on stroke patients did not compare HAL-BWSTT with conventional physiotherapy (CPT). Therefore, we performed a crossover clinical trial comparing CPT and HAL-BWSTT in chronic stroke patients with hemiparesis, the HALESTRO study. Our hypothesis was that HAL-training would have greater effects on walking and posture functions compared to a mixed-approach CPT. Methods: A total of 18 chronic stroke patients participated in this study. Treatment consisted of 30 CPT sessions and of 30 sessions of BWSTT with a double leg type HAL exoskeleton successively in a randomized, crossover study design. Primary outcome parameters were walking time and speed in 10-meter walk test (10MWT), time in timed-up-and-go test (TUG) and distance in 6-min walk test (6MWT). Secondary outcome parameters were the functional ambulatory categories (FAC) and the Berg-Balance Scale (BBS). Data were assessed at baseline, at crossover and at the end of the study, all without using and wearing HAL. Results: Our study demonstrate neither a significant difference in walking parameters nor in functional and balance parameters. When HAL-BWSTT was applied to naïve patients, it led to an improvement in walking parameters and in balance abilities. Pooling all data, we could show a significant effect in 10MWT, 6MWT, FAC and BBS, both therapies sequentially applied over 12 weeks. Thereby, FAC improve from dependent to independent category (3 to 4). One patient dropped out of the study due to intensive fatigue after each training session. Conclusion: HAL-BWSTT and mixed-approach CPT were effective therapies in chronic stroke patients. However, compared with CPT, HAL training with 30 sessions over 6 weeks was not more effective. The combination of both therapies led to an improvement of walking and balance functions. Robotic rehabilitation of walking disorders alone still lacks the proof of superiority in chronic stroke. Robotic treatment therapies and classical CPT rehabilitation concepts should be applied in an individualized therapy program.