Evaluation of 3 pushrim-activated power-assisted wheelchairs in patients with spinal cord injury.

Objective: To assess differences between manual wheelchairs and 3 pushrim-activated power-assisted wheelchairs (PAPAWs): Servomatic A and B and E-motion.

Design: Repeated measures.

Setting: Rehabilitation hospital.

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.

To describe muscle involvement on whole-body MRI scans in adult patients at different stages of late-onset Pompe disease. Twenty patients aged 37 to 75 were examined. Five were bedridden and required ventilatory support.

Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.

Pompe disease is a rare metabolic myopathy caused by lysosomal α-glucosidase deficiency. Pompe disease ranges from a rapidly progressive course when symptoms present in infancy to a more slowly progressive rate when symptoms present in childhood or adulthood. This open-label prospective exploratory study investigated the effect of 12 months of recombinant enzyme replacement therapy in 5 adult patients who had already advanced to a very severe stage of Pompe disease.

Comparative evaluation of electric wheelchair manoeuvrability.

Objective: The aim of this study was to determine whether manoeuvrability varied between electric wheelchairs.

Design: Randomized, prospective, repeated measures design.

Subjects: Twelve wheelchair users.

Hand versus mouth for call-bell activation by DMD and Becker patients.

Severe hand dysfunction is common in patients with Duchenne muscular dystrophy (DMD) and may preclude the use of conventional call-bells. We prospectively evaluated a call-bell with two hand-controlled interfaces (push-button and key-pinch) and two mouth-controlled interfaces (sip-or-puff) in 32 consecutive DMD and Becker patients. Patients called intentionally 348 times, using the sip-or-puff device 237 times and the hand-controlled interfaces 147 times.

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.

Mutations in the SEPN1 gene encoding the selenoprotein N (SelN) have been described in different congenital myopathies. Here, we report the first mutation in the selenocysteine insertion sequence (SECIS) of SelN messenger RNA, a hairpin structure located in the 3' untranslated region, in a patient presenting a classical although mild form of rigid spine muscular dystrophy. We detected a significant reduction in both mRNA and protein levels in the patient's skin fibroblasts.

Optimization of power wheelchair control for patients with severe Duchenne muscular dystrophy.

The extended survival of patients with Duchenne muscular dystrophy (DMD) achieved by the introduction of mechanical ventilation is raising new quality-of-life issues. We evaluated passive range of wrist extension, key pinch strength, and power wheelchair driving in 84 patients. The 47 drivers with restricted driving abilities were older than the 37 unrestricted drivers (27.