Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.

Introduction/aims: Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. In this study we evaluated whether locally acting ACE-083 could safely increase muscle volume and improve functional outcomes in adults with FSHD.

Methods: Participants were at least 18 years old and had FSHD1/FSHD2.

(-)-Epicatechin induces mitochondrial biogenesis and markers of muscle regeneration in adults with Becker muscular dystrophy.

Introduction: We conducted an open-label study to examine the effects of the flavonoid (-)-epicatechin in seven ambulatory adult patients with Becker muscular dystrophy (BMD).

Methods: Seven participants received (-)-epicatechin 50 mg twice per day for 8 weeks. Pre- and postprocedures included biceps brachii biopsy to assess muscle structure and growth-relevant endpoints by western blotting, mitochondria volume measurement, and cristae abundance by electron microscopy, graded exercise testing, and muscle strength and function tests.

Primary lateral sclerosis (PLS) functional rating scale: PLS-specific clinimetric scale.

Introduction: Our research aim was to develop a novel clinimetric scale sensitive enough to detect disease progression in primary lateral sclerosis (PLS).

Methods: A prototype of the PLS Functional Rating Scale (PLSFRS) was generated. Seventy-seven participants with PLS were enrolled and evaluated at 21 sites that comprised the PLSFRS study group.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial.

Background: Inclusion body myositis is an idiopathic inflammatory myopathy and the most common myopathy affecting people older than 50 years. To date, there are no effective drug treatments. We aimed to assess the safety, efficacy, and tolerability of bimagrumab-a fully human monoclonal antibody-in individuals with inclusion body myositis.

Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids.

We describe changes in pulmonary function measures across time in Duchenne muscular dystrophy patients treated with glucocorticoids (GCs) > 1 year compared to GC naïve patients in the Cooperative International Research Group Duchenne Natural History Study, a multicenter prospective cohort study. 397 participants underwent 2799 pulmonary function assessments over a period up to 10 years. Fifty-three GC naïve participants (< 1 month exposure) were compared to 322 subjects with > 1 year cumulative GC treatment.

The bench is closer to the bedside than we think: Uncovering the ethical ties between preclinical researchers in translational neuroscience and patients in clinical trials.

Millions of people worldwide currently suffer from serious neurological diseases and injuries for which there are few, and often no, effective treatments. The paucity of effective interventions is, no doubt, due in large part to the complexity of the disorders, as well as our currently limited understanding of their pathophysiology. The bleak picture for patients, however, is also attributable to avoidable impediments stemming from quality concerns in preclinical research that often escape detection by research regulation efforts.

Mexiletine for muscle cramps in amyotrophic lateral sclerosis: A randomized, double-blind crossover trial.

Introduction: More than 90% of amyotrophic lateral sclerosis (ALS) patients have muscle cramps, but evidence-based treatments have not been available.

Methods: A multicenter, double-blind, placebo-controlled crossover trial of mexiletine 150 mg twice daily was conducted in ALS patients requesting treatment of symptomatic muscle cramps.

Results: Muscle cramp frequency was reduced in 18 of 20 patients; 13 reductions were attributed to treatment (P < 0.

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study.

Background: Glucocorticoid treatment is recommended as a standard of care in Duchenne muscular dystrophy; however, few studies have assessed the long-term benefits of this treatment. We examined the long-term effects of glucocorticoids on milestone-related disease progression across the lifespan and survival in patients with Duchenne muscular dystrophy.

Methods: For this prospective cohort study, we enrolled male patients aged 2-28 years with Duchenne muscular dystrophy at 20 centres in nine countries.

National Study of Muscle Cramps in ALS in the USA.

The objective of this study was to describe muscle cramps in an US sample of amyotrophic lateral sclerosis (ALS) patients. Utilizing an anonymous web based questionnaire we queried ALS patients regarding the severity, frequency, time-course, treatment of muscle cramps and their relationship to pain. The survey had 282 respondents with 92% reporting that they had cramps.

Longitudinal evaluation of upper extremity reachable workspace in ALS by Kinect sensor.

Our objective was to evaluate longitudinal changes in Microsoft Kinect measured upper extremity reachable workspace relative surface area (RSA) versus the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R), ALSFRS-R upper extremity sub-scale and Forced Vital Capacity (FVC) in a cohort of patients diagnosed with amyotrophic lateral sclerosis (ALS). Ten patients diagnosed with ALS (ages 52-76 years, ALSFRS-R: 8-41 at entry) were tested using single 3D depth sensor, Microsoft Kinect, to measure reachable workspace RSA across five visits spanning one year. Changes in RSA, ALSFRS-R, ALSFRS-R upper extremity sub-scale, and FVC were assessed using a linear mixed model.

Complementary and Alternative Therapies in Amyotrophic Lateral Sclerosis.

Given the severity of their illness and lack of effective disease-modifying agents, it is not surprising that most patients with amyotrophic lateral sclerosis (ALS) consider trying complementary and alternative therapies. Some of the most commonly considered alternative therapies include special diets, nutritional supplements, cannabis, acupuncture, chelation, and energy healing. This article reviews these in detail.

Comprehensive rehabilitative care across the spectrum of amyotrophic lateral sclerosis.

Background: Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) is a neurodegenerative disease that results in progressive muscle weakness and wasting. There is no known cure and the disease is uniformly fatal.

Purpose: This review discusses current concepts in ALS care, from breaking the diagnosis to end-of-life care.

Upper extremity 3-dimensional reachable workspace assessment in amyotrophic lateral sclerosis by Kinect sensor.

Introduction: Reachable workspace is a measure that provides clinically meaningful information regarding arm function. In this study, a Kinect sensor was used to determine the spectrum of 3-dimensional reachable workspace encountered in a cross-sectional cohort of individuals with amyotrophic lateral sclerosis (ALS).

Methods: Bilateral 3D reachable workspace was recorded from 10 subjects with ALS and 17 healthy controls.

Palliative Care Issues in Amyotrophic Lateral Sclerosis: An Evidenced-Based Review.

As palliative care physicians become increasingly involved in the care of patients with amyotrophic lateral sclerosis (ALS), they will be asked to provide guidance regarding the use of supplements, diet, exercise, and other common preventive medicine interventions. Moreover, palliative care physicians have a crucial role assisting patients with ALS in addressing health care decisions to maximize quality of life and cope with a rapidly disabling disease. It is therefore important for palliative care physicians to be familiar with commonly encountered palliative care issues in ALS.

Electrodiagnosis in persons with amyotrophic lateral sclerosis.

Electrophysiology remains an important tool in the evaluation of patients presenting with signs and symptoms of motor neuron disease. The electrodiagnostic study should include peripheral nerve conduction studies and needle electromyography to both exclude treatable disease and gather evidence regarding a diagnosis of amyotrophic lateral sclerosis (ALS). The recent changes in the revised El Escorial criteria, recommended by the Awaji-shima consensus group, have increased the diagnostic significance of fasciculation potentials to equal that of fibrillation and positive sharp-wave potentials in the needle electromyography examination of patients suspected of having ALS.

Using palliative care in progressive neuromuscular disease to maximize quality of life.

This article discusses the role of palliative care in the treatment pathway of patients with progressive neuromuscular disease (NDM), including amyotrophic lateral sclerosis and Duchenne muscular dystrophy (DMD). People with severe NMDs like DMD are now living much longer, well in to adulthood. This makes them suitable for the medical model of palliative care.

Management of pulmonary complications in neuromuscular disease.

Restrictive lung disease occurs commonly in patients with neuromuscular disease. The earliest sign of respiratory compromise in the patient with neuromuscular disease is nocturnal hypoventilation, which progresses over time to include daytime hypoventilation and eventually the need for full-time mechanical ventilation. Pulmonary function testing should be done during regular follow-up visits to identify the need for assistive respiratory equipment and initiate early noninvasive ventilation.

Bone health and associated metabolic complications in neuromuscular diseases.

This article reviews the recent literature regarding bone health as it relates to the patient living with neuromuscular disease (NMD). Studies defining the scope of bone-related disease in NMD are scant. The available evidence is discussed, focusing on abnormal calcium metabolism, increased fracture risk, and the prevalence of both scoliosis and hypovitaminosis D in Duchenne muscular dystrophy, amyotrophic lateral sclerosis, and spinal muscular atrophy.

Nutrition assessment and management in amyotrophic lateral sclerosis.

In recent years nutrition assessment and management in amyotrophic lateral sclerosis (ALS) have drawn increased attention. Frequent evaluation of nutrition status is warranted in ALS, given the common occurrence of dysphagia and hypermetabolism and varying disease progression rates. Nutrition management includes dietary and swallow strategies, possible gastrostomy tube placement, and recommendations for vitamin and mineral supplementation.