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.

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.

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

Cerebral aneurysms and arteropathies causing severe cerebrovascular events have been reported as rare complications in patients with late-onset Pompe disease. We investigated the frequency of cerebrovascular anomalies in six patients with late-onset Pompe disease followed at our institution. Clinical data collection and magnetic resonance angiography were performed as part of routine annual examinations. Four out of six patients had brain vascular anomalies including dolichoectasia of the basilar artery and ectasia of internal carotids. These patients also complained of gastrointestinal symptoms (chronic constipation and gastrointestinal reflux). Two patients had clinical signs related to the arteriopathy, including partial paralysis of the third cranial nerve and transient ischemic attacks. At 1 year follow-up, enzyme replacement therapy did not modify the size of cerebral vessels, but patients reported a marked improvement of intestinal symptoms. In conclusion, neurologists should be aware that intracranial artery abnormalities are not infrequent in patients with late-onset Pompe disease, and they should be specifically investigated in the presence of unexplained CNS symptoms.

Development of a French isometric strength normative database for adults using quantitative muscle testing.

OBJECTIVE: To establish a normative database for isometric strength measured by quantitative muscle testing (QMT) for a French adult population. DESIGN: Measurement of maximal voluntary isometric contraction. SETTING: Four clinical centers involved in neuromuscular disorders. PARTICIPANTS: A total of 315 healthy adults (147 men, 168 women) ages 20 to 80 years. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: Isometric torque values of 14 muscle functions (13 bilaterally and neck). RESULTS: This study led to the development of a French isometric strength normative database for adults measured by QMT. For each muscle function, predictive regression models using age, sex, and weight are proposed. Some methodologic issues concerning strength measurement are discussed. CONCLUSIONS: This database can be used to compute relative deficits in muscle strength for 27 muscle functions and also to estimate composite scores for follow-up of patients either during the natural history of their disease or during a therapeutic trial.