Congenital Myopathy With Cytoplasmic Bodies

Abstract

Since early infancy, a 15-year-old girl had suffered from an apparently static neuromuscular disorder that chiefly afflicted her proximal muscles but did not spare her distal ones. Her CPK values had repeatedly been mildly elevated and her electromyogram had been considered "myopathic". There were no similar neuromuscular disorders in the family. Quadriceps muscle biopsy showed a type I myofiber predominance of 96%, this girl's muscle disease represented "congenital myopathy with cytoplasmic bodies" as cytoplasmic bodies were recently reported in other sporadic and hereditary neuromuscular disorders of unknown origin.

Spheroid body myopathy revisited

“…These spheroid bodies bear a close resemblance to the cytoplasmic body first described by Engel. 11 In subsequent reports, the cytoplasmic body has been mentioned in association with a variety of other pathological changes in muscle including denervation, myotonic dystrophy, 11 polymyositis, 41 muscular dystrophies, 27,39 periodic paralysis, 33 mitochondrial myopathy, 6 trichopoliodystrophy, 13 and an unclassified myopathy reported by Nakashima et al 32 In other instances, cytoplasmic bodies were seen as a myopathological hallmark of a congenital myopathy, 18 and even in several families. 10,35 In some of these patients, the cytoplasmic body myopathy seemed to be of late onset, 23,43 with a nosological FIGURE 9.…”

Desmin‐related myopathy with mallory body–like inclusions is caused by mutations of the selenoprotein N gene

“…This is particularly true of congenital myopathies (including MmD) and of the desmin-related myopathies, for which there are divergent definitions, classifications, and nomenclatures 28 (DRM, myofibrillar myopathies, 3,29 protein-surplus myopathies 1,7 ). Recently, a subgroup of DRM was delineated in two European Neuromuscular Center-sponsored workshops 30,31 as congenital myopathies characterized by various desmin-positive inclusions, 11,32 such as cytoplasmic bodies, 33,34 or MB-like inclusions. However, most of these inclusions are not specific; for instance, cytoplasmic bodies may coexist with reducing bodies, [35][36][37][38] appear in other desmin-storage conditions, 39,40 or occur nonspecifically in other neuromuscular entities.…”

Cytoplasmic Body Myopathy with Hypertrophic Cardiomyopathy.

“…The term cytoplasmic body myopathy has been applied when many muscle fibers contain cytoplasmic bodies but no other definitive diag- nosis could be made (8). Twenty-five patients of cytoplasmic body myopathy have been reported in the literature (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14), but the clinical pictures of cytoplasmic body myopathy vary as to heredity, onset, clinical symptoms and prognosis (8, 1 1). This disorder, therefore, seems to encompass several different etiologies.…”