Purpose Open surgical muscle biopsy (OB) and percutaneous Bergstroem needle muscle biopsy (NB) are equally accepted procedures. However, there are no data comparing intraprocedural pain for both techniques. We designed this prospective trial to test the hypothesis that the less invasive NB causes less intraprocedural pain than OB. Methods In a two-center prospective trial, 33 patients underwent both procedures in one session. All patients quantified intraprocedural pain using the numeric rating scale (NRS). Mean NRS values were calculated along with the difference in NRS values (ΔNRS) between both types of biopsies. Results Mean NRS values were 4.5 (±2.7 standard deviation [SD]) for NB and 3.2 (±2.1) for OB (P=0.02). Of the patients, 57.6% described the ΔNRS as ≤2 NRS points. Regarding the pain categories “mild” (NRS 0–3), “moderate” (NRS 4–7), and “severe” (NRS 8–10), no significant difference was observed between NB and OB. Patients who found NB to be more uncomfortable were more likely to quantify the ΔNRS as >2 NRS points than patients finding OB more uncomfortable. Conclusion Our results do not support the hypothesis that intraprocedural pain in NB is less than in OB. When informing the patient about both types of muscle biopsies, the amount of intraprocedural pain should not serve as a differentiating characteristic.

Background: Undesirable loss of weight is a major challenge in amyotrophic lateral sclerosis (ALS). However, little is known about loss of appetite in ALS patients.Objective: We investigated loss of appetite in ALS patients by means of an online self-assessment and whether ALS-related symptoms were associated with it.Methods: Loss of appetite in 51 ALS patients was assessed using the Council on Nutrition Appetite Questionnaire (CNAQ). Loss of appetite is defined as a CNAQ-score of 28 or less with a predicted weight loss of at least 5% within 6 months. We developed an Internet portal to facilitate self-assessment.Results: Approximately half of the ALS patients (47%, 24/51) suffered from severe loss of appetite; after 6 months this increased to nearly two-thirds (65%, 22/34). An average weight loss of 5% was found in the group with severe loss of appetite as compared to only 2% of patients with normal appetite. Interestingly, loss of appetite was associated with respiratory dysfunction (P=. 001, R-2=. 223).Conclusions: Loss of appetite was more common and more severe than expected. It was found to be an independent risk factor for unintended weight loss and may be related to dyspnea. The impact of severe loss of appetite on survival and quality of life should be established in further studies.

Self-assessment of symptom progression in chronic diseases is of increasing importance in clinical research, patient management and specialized outpatient care. Against this background, we developed a secure internet platform (ALShome.de) that allows online assessment of the revised ALS Functional Rating Scale (ALSFRS-R) and other established self-assessment questionnaires. We developed a secure and closed internet portal to assess patient reported outcomes. In a prospective, controlled and stratified study, patients conducted a web-based self-assessment of ALSFRS-R compared to on-site assessment. On-site and online assessments were compared at baseline (n = 127) and after 3.5 months (n = 81, 64%). Results showed that correlation between on-site evaluation and online testing of ALSFRS-R was highly significant (r = 0.96; p < 0.001). The agreement of both capturing methods (online vs. on-site) was excellent (mean interval, 8.8 days). The adherence to online rating was high; 75% of patients tested on-site completed a follow-up online visit (mean 3.5 months, SD 1.7). We conclude that online self-assessment of ALS severity complements the well-established face-to-face application of the ALSFRS-R during on-site visits. The results of our study support the use of online administration of ALSFRS-R within clinical trials and for managing the care of ALS patients.

A family with hypokalemic periodic paralysis (HypoPP) and motor neuron degeneration is reported. In conjunction with HypoPP, the index patient developed progressive muscle atrophy. The calcium channel gene CACNA1S showed a mutation encoding p.R528H, which has been related previously to HypoPP. We propose that CACNA1S mutations may comprise a previously unrecognized genetic risk factor in a greater spectrum of motor unit disorders including amyotrophic lateral sclerosis.