B G M van Engelen

..We suggest that the natural decrease in proteasome expression and its activity during muscle aging contributes to the onset of the disease...

..The currently problem-focused one-to-one out-patient visits often leave little time for the patient's psychosocial needs, patient education, and patient empowerment...

..To better match health care to their problems, concerns and needs, it is important to understand their perspective of living with this hereditary, systemic disease...

..Diffusion tensor imaging (DTI) provides alternative information on microstructural white matter integrity. The association between SVD, its microstructural integrity, and incident dementia and parkinsonism has never been investigated...

..Additionally, possible working mechanisms and the effects on various secondary outcome measures at all levels of the International Classification of Functioning, Disability and Health (ICF) are evaluated...

..These data are in line with reports from Great Britain. The significant impact of ventilatory support on the natural history of various neuromuscular disorders with respiratory insufficiency is a major breakthrough...

..More than 10,000 patients with neuromuscular diseases (4,837 female, 5,476 male) have been registered since 2004, half of whom (n=5059) have peripheral nerve disorders...

..At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype...

..The novel phenotype of nemaline myopathy in the two presented families corresponds to an also novel, as yet uncharacterized, genotype...

..To elucidate the clinical importance of the anti-signal recognition particle (SRP) autoantibody in patients with myositis...

..To redefine phenotypical characteristics for both chloride (ClCh) and sodium channelopathies (NaCh) in non-dystrophic myotonic syndromes (NDM)...

..It might be caused both by changes at the peripheral and at the central level. This study measured the level of experienced fatigue and physiological correlates of fatigue in three genetically defined neuromuscular disorders...

..To investigate the clinical and electrophysiologic phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 in a large number of affected families...

..As a consequence, demands on the muscle are lower, resulting in less peripheral fatigue. SIGNIFICANCE: CFS patients show reduced central activation during MVC. The underlying pathophysiological processes remain still to be determined...

..22; p=0.05). The echo intensity of the forearm flexors was inversely correlated to their muscles' force (r= -0.30; p=0.02). Together, these data suggest that non-dystrophic myotonias may lead to structural muscle changes...

..To determine the efficacy of infliximab combined with weekly methotrexate in drug-naive recent-onset dermatomyositis and polymyositis...

..A systematic review was conducted to summarize and evaluate the literature on the effectiveness of speech pathology interventions in adults with neuromuscular diseases...

..This observation, together with the retained ability of patients to use compensatory arm movements, provides targets that may be amenable to improvement with therapeutic intervention...

..Here falls in patients with facioscapulohumeral disease (FSHD) who suffered from lower limb muscle weakness were examined. This study provides insights into the prevalence, relevance and pathophysiology of falls in FSHD...

..Dysphagia is present among DM2 patients and is more severe in older patients. However, dysphagia is generally mild, and do not lead to weight loss, or aspiration pneumonia...

..Patients lacked the apparently protective HLA-DR53 antigen. The results provide further support for an autoimmune basis in IBM...

..Next, we studied the effects of albuterol and strength training on pain, experienced fatigue, health-related functional status and psychological distress...

..Because the increase of the RP does not lead to an increased force production, we propose that it is a central adaptation counteracting the decrease of cortical efficiency during repetitive contractions...

..The impact of NDM on the physical domains of patients' health status is substantial, and particularly painful myotonia and fatigue tend to impede their physical functioning...

..ATM activity, as measured by phosphorylation of p53, was close to normal, indicating that the p53 response is not the only factor in preventing neural damage in anterior horn cells in AT...

..3. Warming up is a valuable intervention because it improves the velocity and fluency of speech production without aggravating the signs of flaccid dysarthria...

..The most remarkable clinical feature was a peculiar kind of slowness in movement not reported previously in nemaline myopathy...

..A linear equation expresses the relation well: MFCV (m/s)=0.043.MFD (microm)+0.83. We conclude that fiber diameter determines MFCV largely independent of the underlying neuromuscular disorders studied...

..36, p=0.048). We conclude that all tested muscles are affected and structurally abnormal in DM2 patients. Proximal arm muscles are more affected in DM2 compared to DM1, which corresponds to clinical findings...

..Our clinical impression of an association between DM2 and autoimmune diseases or autoantibody formation has not been published previously...

..1514G-->A. In patients with either progressive cerebellar ataxia or LMN disease in the setting of a possibly recessive disorder, Sandhoff disease should be suspected, even when the onset age is over 45 years...

..From this we conclude that AR oculopharyngodistal myopathy is a distinct phenotypical, histological, and genetic entity...

..Methylation levels did not change, while recommended serum-folate concentrations were reached...

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..To assess the clinical implications of autoantibodies directed against different parts of the Mi-2 beta autoantigen in patients with myositis...

..None of the FSHD patients tested positive. We conclude that the tested MSAs are highly specific for myositis and that they are not merely associated with muscle inflammation...

..A new approach is presented to quantify this warm-up phenomenon under clinically relevant gait and balance tasks...

..Given the circumstantial evidence of a beneficial effect of prednisolone on pain and paresis, this report evaluates the effects of prednisolone treatment administered in the acute phase in a retrospective case series of 50 NA patients...

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..To assess the prevalence of severe fatigue and its relation to functional impairment in daily life in patients with relatively common types of neuromuscular disorders...

..Since much research effort is currently being invested in the development of causal medical treatments, the importance of an early diagnosis is likely to become of increasing importance in the future...

..Ptosis and dysphagia are important features in oculopharyngeal muscular dystrophy (OPMD)...

..The present report discusses the different manifestations of fatigue and the available tools to assess peripheral and central fatigue...

..It is not affected by the short term use of immunosuppressive agents (less than four weeks) and it should be incorporated in the histological evaluation when the diagnosis of IIM is under consideration or needs to be excluded...

..These preliminary results suggest that anti-TNF-alpha treatment with infliximab is a safe and rapidly effective therapy for myositis...

..The severe diminishment of neocortical neurones suggests an important role for the NBS1 gene in corticogenesis in man, as suggested earlier in animal studies of other DNA-repair genes...

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..Information of Ca2+-kinetics in these inherited muscular diseases improves our understanding of the role of calcium in the physiology and pathophysiology of the skeletal muscle cell...

..Potentially, this new technique is capable of identifying novel mitochondrial diseases and defining their molecular basis...

..Myotonia and weakness are the most important components of dysarthric speech in myotonic dystrophy...

..Myasthenia gravis and the Lambert-Eaton myasthenic syndrome (LEMS) may have a similar distribution of muscle weakness. Deciding on a diagnosis of myasthenia gravis or LEMS on clinical grounds may therefore be difficult...

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..As the muscles are active over a large range of different muscle lengths during daily activities, this finding may explain, at least in part, the muscle weakness experienced by patients with nemaline myopathy...

..Physical activity does not have a negative effect on the course of these diseases. The long-term prognosis ofdermatomyositis and polymyositis is not well known. The clinical course of sIBM is slowly progressive...

..Our results suggest that phage display derived heavy-chain antibodies can be used in proteomics to study the localization and function of hypothetical gene products, relevant to human disease...

..It is difficult to classify hereditary muscle channelopathies on the basis of clinical criteria only. A more reliable diagnosis is made using DNA analysis. Scientific research should focus on genotype-phenotype relationships...

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