IdiopatickĂŠ zĂĄnětlivĂŠ myopatie (IZM) jsou heterogennĂ­ skupinou onemocněnĂ­ příčně pruhovanĂŠho svalstva a některĂ˝ch dalĹĄĂ­ch orgĂĄnĹŻ. VĂ˝znamnĂĄ část nemocnĂ˝ch mĂĄ v sĂŠru autoprotilĂĄtky, kterĂŠ specifickĂŠ pro podtyp asociujĂ­ s klinickĂ˝m prĹŻběhem prognĂłzou. NovějĹĄĂ­ klasifikačnĂ­ kritĂŠria IZM vyuŞívajĂ­ vĂĄĹženĂŠ zhodnocenĂ­ jednotlivĂ˝ch příznakĹŻ choroby umoĹžĹ...

Metabolic myopathies are characterized by the dysfunction of several metabolic pathways that results in a deficiency fuels required to generate energy for muscle contractions [...]

Skeletal muscle is one of the tissues with the highest rate of autophagosome formation and degradation. A group of congenital myopathies, characterised by lysosomal alteration, are described by massive autophagic build-up and are named Autophagic Vacuolar Myopathies (AVM). Among these disorders, Danon disease (DD) and Pompe (GSD2) are characterised by the presence of large glycogen-fi lled lyso...

Reports show wide variability of electromyography (EMG) in detecting pediatric neuromuscular disorders. The study's aim was to determine EMG/nerve conduction study accuracy compared to muscle biopsy and final clinical diagnosis, and sensitivity for myopathic motor unit potential detection in childhood. Of 550 EMG/nerve conduction studies performed by the same examiner from a pediatric neuromusc...

Electrodiagnostic studies play an important role in the evaluation of patients suspected of having a myopathic disorder. They are used to exclude alternative diagnoses, confirm the presence of muscle disease, narrow down the differential, and identify an appropriate biopsy site. The most informative part of the electrodiagnostic study is needle electromyography. This allows for the analysis of ...

Intravenous immunoglobulin (IVIg) is a new modality used to help treat conditions associated with immune dysregulation. The inflammatory myopathies are a group of complex diseases including dermatomyositis, polymyositis, and inclusion-body myositis. Overall evaluation of IVIg in myopathy has been hampered by difficulty in accurately diagnosing and assessing disease activity. The lack of large, ...

Polymyositis/dermatomyositis are a heterogeneous group of diseases characterised by skeletal muscle inflammation and necrosis.' 2 Since an excellent clinical description in 1903 by Steiner of dermatomyositis, which is essentially still valid,3 much progress has been made towards our understanding of this group of diseases. The most widely used clinical classification of idiopathic inflammatory ...