[Systemic muscle cramps--2 autopsy cases].
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Biomedical subjects
Publications and source records attributed to E Satoyoshi.
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An autopsy of a 23-year-old woman with progressive muscular weakness and wasting showed a unique muscle abnormality with segmental involvement of individual fibers by peculiar inclusions. Electron microscopically, these inclusions resembled cytoplasmic bodies, being formed of two concentric zones of filamentous materials. They seemed to arise from filaments of myofibrils that were fragmented and highly disorganized in affected areas.
An 11-month-old girl and her mother had similar muscular weakness and wasting shich started in early life and were non-progressive throughout the course of the illness. Muscle biopsy in the girl revealed muscle fibers with central nuclei and surrounding clear areas compatible with myotubular, centronuclear or peri-centri-nuclear myopathy, whereas the biopsy from the mother showed a selective atrophy of Type I fibers without central nuclei. Since the grandfather also had similar clinical features, a heredofamilial neuromuscular disease was thought likely, and it is postulated that the pathological change in the girl represented an earlier, and in the mother a later manifestation of the same disease.
An 11-year-old boy and his 40-year-old mother with congenital, non-progressive muscular weakness and wasting are described. Muscle biopsies from both cases showed a selective atrophy of Type I fibers without any structural change except for very few nemaline bodies. Probably, the neuromuscular disorder in this family is identical to the congenital fiber type disproportion described by Dubowitz and Brooke, but familial Type I fiber atrophy (hypotrophy, or hypoplasia) is considered to be a more appropriate descriptive term for a family with such distinct histochemical characteristics.
Evidence is presented pointing to an increased incidence of multiple sclerosis having taken place in South Africa during the period 1964 to 1970 and in Tokyo, Japan, during the period 1966 to 1972. There is a possibility that these changes in incidence point to the introduction during the years immediately after the second world war, of an infective element-probably from a high-risk area-to Tokyo and South Africa. If this is so, it lends support to the theory of an infective basis for multiple sclerosis and that the suspected infection in prepubertal susceptibles may produce the symptoms of multiple sclerosis years later. Other factors relevant to multiple sclerosis such as environmental changes, improved diagnostic techniques, and susceptibility are discussed.
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