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Objective: To evaluate the 5-year change in respiratory function in patients with facioscapulohumeral muscular dystrophy (FSHD)., Methods: Genetically confirmed patients with FSHD aged ≥ 18 years were examined twice over five years. Forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1) were measured using hand-held spirometry with a face mask. Several clinical outcome measures were correlated to respiratory function., Results: Ninety-two patients were included (57% male, age 18-75 years). At baseline, the spirometry outcomes of 41 patients showed a restrictive ventilatory pattern (FVC < 80% and FEV1/FVC ≥ 70% of predicted) and of 48 patients at follow-up. The mean FVC decreased from baseline to follow-up from 79.0 to 76.7% predicted (p = 0.021). This decrease was driven by a subgroup of 15 patients who had a deterioration of FVC of > 10% predicted. The subgroup of 15 patients was more severely affected at baseline (p = 0.002 for FSHD clinical score and 0.007 for Ricci score). They developed more frequently spinal and thorax deformities (p < 0.001 for kyphoscoliosis and 0.012 for pectus excavatum) and had a larger decline in axial muscle function (p = 0.020). Only weak correlations were found between the change in FVC% predicted and the change in clinical scores between baseline and follow-up., Interpretation: Respiratory function remained stable in most patients with FSHD, but a subgroup of patients showed a pronounced deterioration. They showed more severe muscle weakness including the leg muscles at baseline (Ricci score ≥ 6), had spinal and thorax deformities and a relatively fast decline in axial muscle function at follow-up., (© 2022. The Author(s).)

Background: Promising genetic therapies are being investigated in facioscapulohumeral muscular dystrophy (FSHD). However, the current cost of illness is largely unknown., Objective: This study aimed at determining the socioeconomic burden of FSHD., Methods: Adult patients with FSHD from the Dutch FSHD registry were invited to complete a questionnaire on medical consumption, work productivity and health-related quality of life (HR-QoL) using the EQ-5D-5L. Associated costs were calculated from a societal perspective. A generalized linear model was fitted to the data to investigate whether level of mobility was related to annual costs of illness., Results: 172 patients with FSHD completed the questionnaire (response rate 65%). The per-patient annual direct medical costs of FSHD were estimated at €12,077, direct non-medical costs at €9179 and indirect costs at €5066, adding up to a total cost of illness of €26,322 per patient per year. The direct costs of illness were €21,256, approximately five times higher than the mean per-capita health expenditures in the Netherlands. Major cost-driving factors were formal home care and informal care. A decreased level of mobility was associated with higher direct costs of illness. HR-QoL was significantly reduced in patients with FSHD with a median health utility value of 0.63., Conclusions: We show that FSHD is associated with substantial direct and indirect socioeconomic costs as well as a reduction in HR-QoL. These findings are important for health care decision makers and aids in allocation of research funds and evaluation of the cost-effectiveness of novel therapies., (© 2021. The Author(s).)

Despite loss of centrally mediated sympathetic vasoconstriction to the legs, spinal cord-injured individuals cope surprisingly well with an orthostatic challenge. This study assessed changes in leg vascular resistance following head-up tilt in healthy (C) and in paraplegic (P) individuals. After 10 min of supine rest, subjects were tilted 30 degrees head-up. Mean arterial pressure (MAP) and total peripheral resistance (TPR) increased in C (MAP from 76.7 +/ -6.6 mmHg to 80.6 +/- 8.2 mmHg; TPR from 1.12 +/- 0.26 AU to 1.19 +/ -0.31 AU) while both remained unchanged in P. Echo Doppler ultrasound determined red blood cell velocity in the femoral artery, which decreased (P from 18.9+/-6.2 cm/s to 12.5 +/- 4.5 cm/s, P = 0.001; C from 16.3 +/- 6.2 cm/s to 10.8 +/- 5.0 cm/s, P = 0.001) and leg vascular resistance, which increased (P from 402 +/- 137 AU to 643 +/- 274 AU, P = 0.001; C from 238 +/- 68 AU to 400 +/- 122 AU, P = 0.003) from supine to upright. The present study shows that independent of supraspinal sympathetic control, humans are able to increase leg vascular resistance and maintain blood pressure during head-up tilt.

It has been shown that peak oxygen uptake (O(2)peak) during leg exercise is enhanced by an increased inspiratory oxygen fraction ( FiO(2)), indicating that oxygen supply is the limiting factor. Whether oxygen supply is a limiting factor in arm exercise performance is unknown. The purpose of this study, therefore, was to examine the effect of different levels of FiO(2 )on O(2)peak during arm exercise in healthy individuals. Nine men successfully performed three incremental arm-cranking exercise tests with FiO(2)15%, FiO(2)21% and FiO(2)50% applied in counterbalanced order. A significant FiO(2 )dependency was observed for O(2)peak ( p=0.02) and power output ( p=0.03) and post hoc tests revealed a significant difference in O(2)peak between 15 and 50% FiO(2 )( p=0.02), but not between 15 and 21% FiO(2), and 21 and 50% FiO(2). The results of this study show that O(2)peak is enhanced with increasing FiO(2), and suggest that O(2)peak during arm exercise is limited by oxygen supply rather than by the metabolic machinery within the muscle itself.