Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy.
نویسندگان
چکیده
منابع مشابه
Chronic 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...
متن کاملInfantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.
Acute infantile spinal muscular atrophy (SMA type I, Werdnig-Hoffmann disease) has generally been accepted as an autosomal recessive disorder. However, several investigators have noted a slightly increased male to female ratio. We describe here a family with two affected male sibs who had a form of acute infantile SMA with congenital bone fractures, whose parents were first cousins. Pedigree an...
متن کاملBlake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature
BACKGROUND We report a case of a neonate with proximal spinal muscular atrophy (SMA) type 1 (also known as Werdnig-Hoffmann disease or severe infantile acute SMA) associated with a Blake's pouch cyst; a malformation that is currently classified within the spectrum of Dandy-Walker complex. The association of the two conditions has not been previously reported in the English literature. A compreh...
متن کاملCell 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 کاملThe gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.
A retrospective total population study ofacute Werdnig-Hoffmann disease (spinal muscular atrophy type 1) has been undertaken in three counties of North-East England (Northumberland, Newcastle upon Tyne, and Durham). The gene frequency for the disease is q= 0 00625 with a carrier frequency for this part of the English population of 1 in 80. The data suggest that there may be differences in gene ...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 48 6 شماره
صفحات -
تاریخ انتشار 1973