Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients.

OBJECTIVE: The aim of this study was to investigate the effects on motor function, muscle strength, and endurance of short-term neuromuscular electrical stimulation training of the tibialis anterior muscles in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) in comparison with healthy controls. DESIGN: This prospective study included 10 patients with FSHD1 and 10 healthy participants. Maximal voluntary isometric contraction of ankle dorsiflexion and a 2-min sustained dorsiflexion maximal voluntary contraction with surface electromyography recordings of the tibialis anterior and the soleus muscles were measured and motor function clinical tests were performed before and after the training period. RESULTS: No significant short term training effect was found in any of the investigated variables for either group, although a tendency towards an increase was noted for the manual muscle testing of the FSHD1. Patients with FSHD1 showed lower maximal voluntary contraction force and lower maximal tibialis anterior surface electromyography amplitude than healthy participants. During the 2-min sustained maximal voluntary contraction, the percentage of force loss was lower for the FSHD1 patients, suggesting that they were experiencing a lower amount of muscle fatigue compared to the healthy participant group. CONCLUSION: The present neuromuscular electrical stimulation protocol was not strenuous enough and/or the parameters of stimulation were not adequate to improve dorsiflexion strength, muscle endurance, and motor function in FSHD1 patients and healthy participants.

Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study.

OBJECTIVE: To investigate the effect of regular aerobic training and postexercise protein-carbohydrate supplementation in patients with facioscapulohumeral muscular dystrophy (FSHD). METHODS: In this randomized, double-blind, placebo-controlled parallel study, we randomized untrained men (n = 21) and women (n = 20) with FSHD (age 19-65 years) to 2 training groups-training with protein supplement (n = 18) and training with placebo supplement (n = 13)-and a nonintervention control group (n = 10). We assessed fitness, walking speed, muscle strength, questionnaires, and daily activity levels before and after 12 weeks of interventions. Training involved 36 sessions of 30-minute cycle-ergometer training. After each session, patients drank either a protein-carbohydrate or placebo beverage. RESULTS: In the trained participants, fitness, workload, and walking speed improved (10% [confidence interval (CI) 4%-15%], 18% [CI 10%-26%], 7% [CI 4%-11%], respectively, p < 0.001, number needed to treat = 2.1). Self-assessed physical capacity and health (Short Form-36) also improved. Muscle strength and daily activity levels did not change with training. Protein-carbohydrate supplementation did not result in further improvements in any tests compared to training alone. CONCLUSIONS: This randomized, controlled study showed that regular endurance training improves fitness, walking speed, and self-assessed health in patients with FSHD without causing muscle damage. Postexercise protein-carbohydrate supplementation does not add any further improvement to training effects alone. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that regular aerobic training with or without postexercise protein-carbohydrate supplementation improves fitness and workload in patients with FSHD.

Effects of vitamin C, vitamin E, zinc gluconate, and selenomethionine supplementation on muscle function and oxidative stress biomarkers in patients with facioscapulohumeral dystrophy: a double-blind randomized controlled clinical trial.

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease characterized by progressive weakness and atrophy of specific skeletal muscles. As growing evidence suggests that oxidative stress may contribute to FSHD pathology, antioxidants that might modulate or delay oxidative insults could help in maintaining FSHD muscle function. Our primary objective was to test whether oral administration of vitamin C, vitamin E, zinc gluconate, and selenomethionine could improve the physical performance of patients with FSHD. Adult patients with FSHD (n=53) were enrolled at Montpellier University Hospital (France) in a randomized, double-blind, placebo-controlled pilot clinical trial. Patients were randomly assigned to receive 500 mg vitamin C, 400mg vitamin E, 25mg zinc gluconate and 200 µg selenomethionine (n=26), or matching placebo (n=27) once a day for 17 weeks. Primary outcomes were changes in the two-minute walking test (2-MWT), maximal voluntary contraction, and endurance limit time of the dominant and nondominant quadriceps (MVCQD, MVCQND, TlimQD, and TlimQND, respectively) after 17 weeks of treatment. Secondary outcomes were changes in the antioxidant status and oxidative stress markers. Although 2-MWT, MVCQ, and TlimQ were all significantly improved in the supplemented group at the end of the treatment compared to baseline, only MVCQ and TlimQ variations were significantly different between groups (MVCQD: P=0.011; MVCQND: P=0.004; TlimQD: P=0.028; TlimQND: P=0.011). Similarly, the vitamin C (P<0.001), vitamin E as α-tocopherol (P<0.001), vitamin C/vitamin E ratio (P=0.017), vitamin E γ/α ratio (P=0.022) and lipid peroxides (P<0.001) variations were significantly different between groups. In conclusion, vitamin E, vitamin C, zinc, and selenium supplementation has no significant effect on the 2-MWT, but improves MVCQ and TlimQ of both quadriceps by enhancing the antioxidant defenses and reducing oxidative stress. This trial was registered at clinicaltrials.gov (number: NCT01596803).

An integrated approach in a case of facioscapulohumeral dystrophy.

BACKGROUND: Muscle fatigue, weakness and atrophy are basilar clinical features that accompany facioscapulohumeral dystrophy (FSHD) the third most common muscular dystrophy.No therapy is available for FSHD. CASE PRESENTATION: We describe the effects of 6mo exercise therapy and nutritional supplementation in a 43-year-old woman severely affected by FSHD. CONCLUSION: A mixed exercise program combined with nutritional supplementation can be safely used with beneficial effects in selected patients with FSHD.

Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients.

OBJECTIVE: To investigate the feasibility, safety, and effectiveness of neuromuscular electrical stimulation (NMES) strength training in facioscapulohumeral muscular dystrophy (FSHD) patients. DESIGN: Uncontrolled before-after trial. SETTING: Neuromuscular disease center in a university hospital and a private-practice physical therapy office. PARTICIPANTS: FSHD patients (N=9; 3 women, 6 men; age 55.2+/-10.4y) clinically characterized by shoulder girdle and quadriceps femoris muscle weakness. INTERVENTIONS: Patients underwent 5 months of strength training with NMES bilaterally applied to the deltoideus, trapezius transversalis, vastus lateralis, and vastus medialis muscles for five 20-minute sessions per week. MAIN OUTCOME MEASURES: Plasma creatine kinase (CK) activity; scores for pain and fatigue on visual analog scales (VAS), manual muscle testing (MMT), maximal voluntary isometric contraction (MVIC), 6-minute walking tests (6MWT), and self-reported changes in daily living activities. RESULTS: NMES strength training was well tolerated (CK activity and pain and fatigue scores on VAS were not modified). Most of the muscle functions (shoulder flexion and extension and knee extension) assessed by MMT were significantly increased. MVIC of shoulder flexion and abduction and the 6MWT distance were also improved. CONCLUSIONS: In FSHD, NMES strength training appears to be safe with positive effects on muscle function, strength, and capacity for daily activities.

Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy.

Previous studies found that some patients with severe, early onset facioscapulohumeral muscular dystrophy (FSHD) present epilepsy and mental retardation. This suggests a functional involvement of central nervous system in severe FSHD. It is unknown whether minor functional changes of central nervous system are also present in less severe forms of FSHD. To investigate this, we examined the excitability of neuronal networks of the motor cortex with a range of transcranial magnetic stimulation paradigms in 20 FSHD patients with heterogeneous clinical severity and compared the data with that from 20 age-matched healthy individuals and from 6 age-matched patients with other muscle diseases. There was significantly less intracortical inhibition in FSHD patients (mean responses +/- SD reduced to 58.1+/-43.5% of the test size) than in controls (mean responses +/- SD reduced to 29.3+/-13.5% of the test size; P=0.025) and in patients with other muscle diseases (mean responses +/-SD, reduced to 30.6+/-11.7% of the test size; P=0.046). No significant difference was found between the control group and patients with other muscle diseases (P=0.970).

Neuromuscular rehabilitation and electrodiagnosis. 5. Myopathy.

This self-directed learning module highlights hypotonia, facioscapulohumeral dystrophy, and herbal supplements causing muscle weakness. It is part of the chapter on neuromuscular rehabilitation and electrodiagnosis in the Self-Directed Physiatric Education Program for practitioners and trainees in physical medicine and rehabilitation. This section presents advances in the diagnosis of myotubular dystrophy, myoblast transfer, and problems associated with the increased use of herbal supplements.