Case report: A creatine kinase-borg scale values-based approach to tailor physical training in a central core myopathy patient.

Background: Patients with central core myopathy (CCM) can be at risk of exercise-induced rhabdomyolysis and myalgia. Despite its possible positive effects, physical training has been long avoided in these patients as no population-specific exercise adaption strategies have been developed. Here we present the case of a 17-year-old male CCM patient who underwent a 3-month training program tailored to a preliminary test aimed at assessing his physical exertion tolerance measured via changes in serum creatine kinase (CK). Methods: The preliminary tolerance test consisted of three 25-minute sessions (one session per week) of physical exercise (aerobic, resistance and mixed) at an intensity quantified as level 6 of the Borg Category Ratio (CR) 0-10 scale. A blood sample to assess CK was conducted 36 h following eachsession. The intervention consisted of a training program (three sessions per week) including both resistance and aerobic exercises concomitant with a personalized nutritional plan. Before and after intervention, a battery of metabolic (indirect calorimetry, bioimpedance) and cardiopulmonary (CPET) tests were performed. Results: After training, improvements of the anaerobic threshold (+6.9%), normalized VO2 max (+15%) and body composition (muscle mass, +1.1 kg; fat mass, -1.1 kg were observed without pain, rhabdomyolysis, and blood CK augmentation compared to pretraining values. Conclusion: Our results highlight that a mixed aerobic/resistance training, properly tailored and supported by a specific nutritional plan, may safely improve the physical fitness and body composition in a CCM patient. Dosing exercise-induced CK serum change following Borg CR-10 intensity assessment, may be useful to correctly tailor physical exercise in these patients.

Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy.

PURPOSE: Fat free mass (FFM) is considered the metabolically active component of human body and is positively associated with maximal oxygen uptake ( VO 2 max ). However, FFM is composed of metabolically active and inactive subcomponents whose proportion can vary depending on body composition and clinical condition, possibly affecting such association. Although it is known that in facioscapulohumeral dystrophy (FSHD) peculiar changes in body composition occur, it is unclear whether there are alterations in FFM composition and, if so, whether such alterations affect the association towards VO 2 max compared to healthy subjects (HS). METHODS: To address this issue, 27 FSHD patients (mean age 37.3; 9 female) and 27 sex and age matched HS, underwent an assessment of VO 2 max by cardiopulmonary exercise tests (CPET) and body composition, with reference to FFM and its subcomponents, by bioimpedance analysis. RESULTS: In between-groups comparison, patients showed lower amounts of body cell mass (BCM) and intracellular water (ICW) which reflect in lower BCM/FFM ratio and higher extracellular to intracellular water ratio (ECW/ICW). Patients' VO 2 max was lower than HS and, even if with lower associative values than HS, correlated with FFM and BCM, while BCM/FFM and ECW/ICW ratios associations were observed only in HS. CONCLUSION: FSHD patients showed lower amount of BCM and ICW. BCM resulted as the parameter with the highest associative value with VO2max in both groups. Since VO 2 max is associated with functional ability in dystrophic patients, BCM, rather than FFM, could be an additional body composition-based clinical stratification factor.

Maximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy.

Facioscapulohumeral dystrophy (FSHD) leads to progressive changes in body composition such as loss of muscle mass and increase in adiposity. In healthy subjects, anthropometric parameters are associated with the maximum volume of oxygen consumed per minute (VO2max), which is a health and function indicator in several populations of subjects, both healthy and pathological. Since VO2max can be difficult to test in patients with FSHD due to exercise intolerance, the identification of associated anthropometric parameters could provide new easily obtainable elements for the patients' clinical stratification. The aim of this study was to evaluate whether anthropometric and body composition parameters are associated with VO2max in patients with FSHD. A total of 22 subjects with a molecular genetics-based diagnosis of FSHD (6 females, 16 males, mean age of 35.18 years) were recruited for the study. VO2max was measured by cardiopulmonary exercise tests (CPETs) on a cycle ergometer, utilizing a step incremental technique (15 Watts (W) every 30 s). Weight (Kg) and height (m) were obtained and utilized to calculate body mass index (BMI). Body composition parameters (fat mass (FM), fat free mass (FFM), and body cell mass (BCM)) were obtained by bioelectrical impedance analysis (BIA). Significant negative associations were found between VO2max and FM (Spearman correlation coefficient (SCC) -0.712), BMI (SCC -0.673), age (SCC -0.480), and weight (SCC -0.634), unlike FFM and BCM. Our results indicate that FM, BMI, age, and body weight are negatively associated with VO2max in patients with FSHD. This evidence may help practitioners to better stratify patients with FSHD.

An 8-month adapted motor activity program in a young CMT1A male patient.

Background: It is unclear whether prolonged periods of training can be well tolerated. In Charcot-Marie Tooth disease (CMT). We report the effects of an 8-month, adapted motor activity (AMA) program in a 16-years-old CMT1A male patient. The program included strength, mobility, and balance training (two sessions per week, 1 h per session). Measures: Walking ability and walking velocity (Six-Minute Walking Test-6MWT, Ten Meters Walking Test-10 mW T), balance (Y-Balance Test-YBT, Berg Balance Scale-BBS), functional mobility (Short Physical Performance Battery-Short physical performance battery), fatigue (Checklist Individual strength questionnaire - CIS20R), health and quality of life (Short Form Health Survey 36 questionnaire-SF-36) were evaluated in three moments: before (T0), after 5 (T1) and 8 (T2) months of adapted motor activity. Dorsal and plantar foot flexion strength (Maximal Voluntary Contraction-maximum voluntary contraction) and neuromuscular functions (Electromyography-sEMG, interpolated twitch technique-ITT) were measured at T1 and T2. Results: Relative to T0, an amelioration of walking ability (6MWT, +9,3%) and balance (with improvements on Y-balance composite normalized mean reach of the right and left limb of 15,3% and 8,5%, respectively) was appreciable. Relative to T1, an increase in foot strength in three out of four movements (right plantar flexion, +39,3%, left plantar flexion, +22,7%, left dorsal flexion, 11,5%) was observed. Concerning voluntary muscle activation, a greater recruitment in the left, unlike right, medial gastrocnemius was observed. Conclusion: Results suggest the safety of an 8-month AMA program in a young patient affected by CMT1A.