رابطه بیماری werdnig hoffman با بیماری kugelberg welander
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Cell adhesion molecule N-CAM is expressed by denervated myofibres in Werdnig-Hoffman and Kugelberg-Welander type spinal muscular atrophies.
Immunocytochemical analysis utilising antibody to neural cell adhesion molecule (N-CAM) was carried out on skeletal muscle biopsies from patients with childhood spinal muscular atrophy. Children with both Werdnig-Hoffmann and Kugelberg-Welander disease showed positive N-CAM reactivity. There were however differences in the N-CAM expression profiles in these two sets of patients. All myofibres w...
متن کاملSensory neuron degeneration in familial Kugelberg-Welander disease.
A 53 year old man developed symptoms of motor neuron disease in childhood. There was a family history of a similar disorder and it was felt to represent a form of Kugelberg-Welander disease. In addition to the motor deficits, sensory abnormalities in his legs were documented during life. Autopsy revealed anterior horn cell loss throughout the length of the spinal cord, with preservation of the ...
متن کاملA case of the Kugelberg-Welander syndrome complicated with cardiac lesions.
There have been a few reports of cardiac involvement in the Kugelberg-Welander syndrome. We presented a case of this syndrome complicated with cardiomegaly and conduction disturbance. The patient, a 21-year-old woman, had atrial standstill and A-V junctional rhythm. The chest X-ray film showed marked cardiomegaly. The His bundle electrogram revealed that H-V interval was 40 msec. She was treate...
متن کاملGenetics of Childhood Spinal Muscular Atrophy ELIZABETH
Spinal muscular atrophy (SMA) is a disease, or group of diseases, of the anterior horn cells of the spinal cord, in which there is widespread atrophy of muscles secondary to anterior horn cell degeneration. Though the characteristic neuronal degeneration can be determined directly only by necropsy, the secondary changes in the skeletal muscle detectable by electromyography and muscle biopsy are...
متن کاملGenetics of childhood spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a disease, or group of diseases, of the anterior horn cells of the spinal cord, in which there is widespread atrophy of muscles secondary to anterior horn cell degeneration. Though the characteristic neuronal degeneration can be determined directly only by necropsy, the secondary changes in the skeletal muscle detectable by electromyography and muscle biopsy are...
متن کاملChronic generalized spinal muscular atrophy of infancy and childhood. Arrested Werdnig-Hoffman disease.
Pearn, J. H., and Wilson, J. (1973). Archives of Disease in Childhood, 48, 768. Chronic generalized spinal muscular atrophy of infancy and childhood: arrested Werdnig-Hoffmann disease. Recent studies have shown that the acute fatal form of infantile spinal muscular atrophy (acute Werdnig-Hoffmann disease or spinal muscular atrophy Type I) is a distinct genetic and clinical entity. This has prom...
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عنوان ژورنال
دوره 4 شماره 6
صفحات 0- 0
تاریخ انتشار 1975-09
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