Myopathies definition

Although clinical examination provides important clues to diagnosis of congenital myopathies, ultrastructural and histochemical examination of muscle biopsies provides the key to definitive identification. Most of the congenital myopathies... 

In the past several clinical patterns have been described. The most important recognized clinical patterns or types of Al toxicity include two types of encephalopathy. Firstly, the classical dialysis dementia sometimes referred to as dialysis encephalopathy syndrome (DES) or dementia dialytica [24, 28, 37, 42, 70-74] and secondly, the acute or subacute Al encephalopathy [41]. There are also two types of bone disease - either osteomalacia with bone fractures and proximal myopathy or aplastic bone disease [41, 75, 76]. There is quite some confusion in the definitions of Al toxicity in the literature. Because there seems to be an obligatory lag phase of at least several days to weeks for symptoms to occur, acute Al encephalopathy, defined as a direct result of a single overdose, probably does not exist. Because of the long lag phase of several months to years necessary to develop the chronic dialysis encephalopathy and also because acute Al encephalopathy has an abrupt, sudden onset of symptoms one can understand why the term acute is used instead of the more descriptive subacute . The descriptions dialysis dementia [37, 42, 46, 73, 74] and dialysis encephalopathy [33-36, 38, 40, 41, 78] are also unfortunate because true dementia is rare in Al encephalopathy [73] and non-dialyzed patients can also develop these symptoms [78]. There are also many dialysis-related encephalopathy syndromes unrelated to Al. As an example,... 

Myopathy is the term used broadly for affections of the skeletal musculature, in which the muscular symptoms in no way arise from disordered function of the central or peripheral nervous system. Within this definition are included, therefore, such widely differing conditions as the polymyositis syndrome, endocrine myopathies associated with thyroid gland disorders, and the muscular dystrophies. 

Treatment was mainly symptomatic. Atropine did not seem to influence the course of IMS. No definite mechanism of IMS was identified, but the authors wondered whether the necrotizing myopathy induced by acute organophosphate poisoning in patients (De Rcuck and Willems, 1975 Weeker et ai. 1986 Tattersall, 1990) and in experimental animals (Ariens el al., 1%9 Dettbarn, 1984 Inns et al, 1990 Dc Bleecker et al., 1991, 1992b, 1998) might underlie the. selective muscle weakness. 

These include the following (a) s-IBM is a vacuolar myopathy with protein aggregates (inclusions), which include aggregates containing amyloid-P, phosphorylated-tau, a-synudein, parkin, and many other AMieimer- and Parkinson-type proteins in those accumnlations (see Chapters 7 and 10). s-IBM still lacks a definitive treatment (see Chapter 7). (b) Hereditary indusion-body myopathy is dne to mutation of the GNE or VCPgene (see Chapters 12 and 15). (c) Adult-onset add-maltase defidency. (d) Dermatomy-ositis often well-treatable (see above and Chapter 3). 

One potential but clear benefit of gene therapy is that it may provide the chance to understand GNB itself, as this protein has been implicated to have roles outside glycobiology [15, 38, 39, 56, 57]. Indeed, the application of gene-/ceU-based therapies will not only give a definite cure, but also provide insights necessary to elucidate the precise mechanism of how the GNE gene defect causes this devastating myopathy. 

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