Recurrent pneumothorax is a rather uncommon finding in patients with neuromuscular diseases. For cases that happen to patients with neuromuscular diseases while on non-invasive positive pressure ventilation, pneumothorax could be fatal. Medical staff must be vigilant for this complication. Recurrent pneumothorax can be treated with either medical or surgical pleurodesis, depending on the patien...

Neuromuscular diseases that affect the respiratory system are a major cause of morbidity and mortality in both acute and long-term settings. This conference examined the pathophysiology and management of neuromuscular diseases in both settings. Presentations by experts representing respiratory, physiologic, pediatric, neurologic, and intensive-care disciplines covered a broad range of topics. T...

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands Teresinha Evangelista , Conrad C. Weihl , Virginia Kimonis , Hanns Lochmüller * on behalf of the VCP related diseases Consortium # a John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle Uni...

In a polysomnographic study of 32 neuromuscular patients-22 with a form of muscular dystrophy, 3 with a form of congenital myopathy, 4 with a form of spinal muscular atrophy, 1 with a recurrent form of polymyositis and 1 with osteogenesis imperfecta syndrome--of which 21 were nonambulatory, we observed sleep related respiratory disturbances represented by: drops in oxygen saturation (SaO2), car...

Neuromuscular disorders (NMD) are heterogeneous group of genetic diseases characterized by muscle weakness and wasting. Duchenne Muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) are two of the most common and severe forms in humans and although the molecular mechanisms of these diseases have been extensively investigated, there is currently no effective treatment. However, new gene-ba...

Peripheral neuropathies may complicate all stages of HIV infection. During the early asymptomatic stages peripheral neuropathies are uncommon, but electrodiagnostic testing reveals subclinical evidence of peripheral nerve involvement in about 10 % of cases. In later stages, symptomatic neuropathies occur in some 30-50 % of patients. Neuropathological studies have shown pathological changes with...

CONTEXT Intravenous immunoglobulin (IVIG) enhances immune homeostasis by modulating expression and function of Fc receptors, interfering with activation of complement and production of cytokines, providing anti-idiotypic antibodies, and affecting the activation and effector functions of T and B cells. These mechanisms may explain the effectiveness of IVIG in autoimmune neuromuscular disorders. ...

Radioimmunoassay of serum myoglobin was performed in 85 patients with muscular symptoms. Elevated levels were found in 93% of patients with myogenic myopathy, in 54% with myasthenia gravis and in 50% with neurogenic myopathy. All 11 patients with polymyositis had elevated myoglobin concentrations. In six of seven patients with polymyositis, who were followed up with repeated determinations, a c...

An increasing number of data demonstrate the utility of ketogenic diets in a variety of metabolic diseases as obesity, metabolic syndrome, and diabetes. In regard to neurological disorders, ketogenic diet is recognized as an effective treatment for pharmacoresistant epilepsy but emerging data suggests that ketogenic diet could be also useful in amyotrophic lateral sclerosis, Alzheimer, Parkinso...

This issue of Pediatric Anesthesia contains reviews of the most recent knowledge in the clinical and anesthetic management of pediatric patients with several different neuromuscular disorders as well as essays on related clinical topics. Many neuromuscular disorders are rare inherited conditions. Usually, these are diagnosed during infancy, childhood, or adolescence. The goal of basing clinical...