Congenital myopathies

To cover these various disorders in an orderly and comprehensive manner, the following sections are devoted, respectively, to the muscular dystrophies the congenital myopathies the metabolic myopathies the myotonias, periodic paralyses, and malignant hyperpyrexia the neurogenic disorders the inflammatory muscle disorders the endocrine myopathies and the drug-induced and toxic myopathies. 

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... 

Late-onset centronuclear myopathies show a predominance of limb-girdle and truncal muscle weakness with only rare facial or eye involvement. Although this group is classified with the congenital myopathies, weakness only becomes appar-... 

Fardeau, M. (1992). Congenital myopathies. In Skeletal Muscle Pathology (Mastaglia. F. L.. Walton. J.N., eds.), pp. 237-281, Churchill-Livingstone, Edinburgh. 

Diseases of muscle are usually classified as muscular dystrophies, inflammatory or congenital myopathies, metabolic disorders affecting the muscle, and neurological diseases affecting the innervation of the muscle (so-called motor neuron diseases). In the past, the energy metabolism of some muscular diseases... 

Monnier, N., Ferreiro, A., Marty, I., Labarre-Vila, A., Mezin, P., and Lunardi, J. (2003). A Homozygous Splicing Mutation Causing a Depletion of Skeletal Muscle RYR1 is Associated with Multi-Minicore Disease Congenital Myopathy with Ophthalmoplegia. Hum Mol Genet 12(10) 1171—8. 

Monnier, N., Romero, N. B., Lerale, J., Nivoche, Y., Qi, D., MacLennan, D. H., Fardeau, M., and Lunardi, J. (2000). An Autosomal Dominant Congenital Myopathy with Cores and Rods is Associated with a Neomutation in the RYR1 Gene Encoding the Skeletal Muscle Ryanodine Receptor. Hum Mol Genet 9(18) 2599-608. 

Scacheri, P. C., Hoffman, E. P., Fratkin, J. D., Semino-Mora, C., Senchak, A., Davis, M. R., Laing, N. G., Vedanarayanan, V., and Subramony, S. H. (2000). A Novel Ryanodine Receptor Gene Mutation Causing Both Cores and Rods in Congenital Myopathy. Neurology 55(11) ... 

Ben Yaou, R., et al. (2011). Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J Hum Genet 19 647-654. 

Susceptibility to malignant hyperthermia, an autosomal dominant trait, is associated with certain congenital myopathies such as central core disease. In the majority of cases, however, no clinical signs are visible in the absence of anesthetic intervention. 

In 1993, 102 children with TIPPV could not be managed in the community, and therefore remained in pediatric wards of 52 hospitals for an average of 823 days (9). Their diagnosis included spinal muscular atrophy type 1, severe congenital myopathy, chronic lung damage after ventilatory support required by premature birth, severe mental retardation, and cerebral palsy (9). 

In neuromuscular disorders, such as Duchenne and Becker muscular dystrophies, spinal muscle atrophy, and other congenital myopathies, the histologic architecture of muscles is disrupted by muscle cell replacement with connective tissue and fat. This... 

It was a reasonable hope that application of the electron microscope would provide structural clues pointing to the site of the initial lesion in dystrophic muscle, but studies by many workers during the past decade have not revealed any sufficiently specific changes [43]. However, a number of rare congenital myopathies have shown certain changes in ultrastructure which have assisted classification and which may help in their understanding for example, some manifest particular abnormalities in the mitochondria. 

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