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Introduction/Aims: Limb girdle muscular dystrophy type 2B (LGMDR2) and facioscapulohumeral muscular dystrophy (FSHD) are genetic muscular dystrophies with an increasing number of potential therapeutic approaches. The aim of this study is to report the data of exploratory digital outcomes extracted from wearable magneto‐inertial sensors used in a non‐controlled environment for ambulant patients with FSHD and LGMDR2 in a short‐term, multicenter clinical study. Methods: Digital outcomes (stride length, stride speed, and walk parameters in a non‐controlled environment) were used as exploratory outcomes in the open‐label study ATYR1940‐C‐004 in ambulant patients during the 3 mo of ATYR1940 treatment and 1 mo of follow‐up. Activity and gait variables were calculated from the data recorded in 30‐day sub‐periods using the sensors. For each sub‐period, activity and gait parameters were compared between FSHD and LGMDR2 patients. Change from baseline over the 4‐mo study period was assessed. Results: Ten patients (5 FSHD, 5 LGMDR2) were ambulant and compliant for analysis. Gait parameters, but not activity variables, were significantly lower in LGMDR2 compared to FSHD patients at baseline. Longitudinal analyses showed a slight but significant decrease in stride speed at month 4 for all subjects. Activity variables such as total number of strides per day were highly variable from month to month in individual patients, and no visit effects were found for this variable. Discussion The present study suggests that home‐recorded stride speed constitutes a precise and sensitive outcome in ambulant patients with FSHD and LGMDR2. [ABSTRACT FROM AUTHOR]

Introduction: Eculizumab is effective and well tolerated in patients with antiacetylcholine receptor antibody-positive refractory generalized myasthenia gravis (gMG; REGAIN; NCT01997229). We report an interim analysis of an open-label extension of REGAIN, evaluating eculizumab's long-term safety and efficacy.Methods: Eculizumab (1,200 mg every 2 weeks for 22.7 months [median]) was administered to 117 patients.Results: The safety profile of eculizumab was consistent with REGAIN; no cases of meningococcal infection were reported during the interim analysis period. Myasthenia gravis exacerbation rate was reduced by 75% from the year before REGAIN (P < 0.0001). Improvements with eculizumab in activities of daily living, muscle strength, functional ability, and quality of life in REGAIN were maintained through 3 years; 56% of patients achieved minimal manifestations or pharmacological remission. Patients who had received placebo during REGAIN experienced rapid and sustained improvements during open-label eculizumab (P < 0.0001).Discussion: These findings provide evidence for the long-term safety and sustained efficacy of eculizumab for refractory gMG. Muscle Nerve 2019. [ABSTRACT FROM AUTHOR]

Introduction/Aims Methods Results Discussion Ryanodine receptor 1 (RYR1)‐related myopathies associated with variants in the RYR1 gene present with a wide range of symptoms and severity. Two of the milder phenotypes associated with dominant pathogenic variants in RYR1 are rhabdomyolysis and myalgia. Only a few studies have investigated the muscle function and structure of individuals with RYR1‐related rhabdomyolysis/myalgia objectively, showing inconsistent results. This study aimed to describe structural changes and contractility of muscles in individuals with RYR1‐related rhabdomyolysis/myalgia.We investigated 15 individuals with dominant variants in the RYR1‐gene and compared them with 15 age‐, sex‐, and body mass index (BMI)‐matched controls using MRI, stationary isokinetic dynamometry, and comprehensive clinical evaluation.No significant differences were found between individuals with RYR1‐related rhabdomyolysis/myalgia and healthy controls in peak torque, fat fraction, cross‐sectional area, contractile cross‐sectional area, or contractility (p > .05) in muscles of the lower back (MRI data only), thigh, or calf. On clinical examination, three individuals exhibited weakness in hip or back extension on the Medical Research Council (MRC) test and eight had muscle hypertrophy. Individuals with weakness were not hypertrophic.Most individuals with RYR1‐related rhabdomyolysis/myalgia have close to normal strength, and normal fat fraction and contractility of muscles, and therefore constitute a mild phenotype of RYR1‐related myopathies. [ABSTRACT FROM AUTHOR]

This editorial discusses the diagnostic process for rhabdomyolysis, a condition characterized by muscle breakdown. The authors conducted a study and found that genetic testing was effective in diagnosing the condition in 15 out of 66 patients. They suggest that genetic testing should be the first step in diagnosing unprovoked rhabdomyolysis. The authors also emphasize the importance of distinguishing between triggers and underlying genetic susceptibility and propose using the RHABDO acronym to identify those at risk. They provide a flowchart for referral and diagnostic screening and call for further research on the predictive value of the acronym. They also highlight the need for a different diagnostic approach for children and adolescents and stress the importance of safe return to physical exercise and prevention of triggers after rhabdomyolysis. [Extracted from the article]