1/5. Centronuclear myopathy and type-1 hypotrophy without central nuclei. Distinct nosologic entities?Four infants presented with severe hypotonia, weakness, and hypoventilation or apnea at birth. Their clinical presentations and courses resembled those of the x-linked recessive form of centronuclear myopathy. Histologic examination of their muscle biopsy specimens showed patterns ranging between centronuclear myopathy and type-1 hypotrophy without central nuclei. Regardless of their gender or the appearance of their biopsy specimens, the children all had a poor outcome. The clinical and biopsy findings in these infants suggest that centronuclear myopathy and type-1 hypotrophy without central nuclei do not represent distinct nosologic entities. It seems more likely that the histologic changes represent abnormalities in fiber size distribution and development, which are nonspecific and which reflect a primary defect at one or more sites in the neuraxis.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
2/5. X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female.The myotubular myopathies are a heterogeneous group of muscle disorders in which x-linked, autosomal recessive, and autosomal dominant inheritance have been reported. female carriers of x-linked myotubular myopathy have been reported to have abnormal muscle biopsies. We report a woman who had a normal muscle biopsy but who had 2 sons with myotubular myopathy by different fathers, indicating that a normal muscle biopsy of the mother cannot exclude x-linked inheritance. The quantity of fetal activity correlated with the severity of the disorder in this pedigree.- - - - - - - - - - ranking = 3keywords = x-linked (Clic here for more details about this article) |
3/5. craniopharyngioma in a boy with centronuclear (myotubular) myopathy: clinical and postmortem findings.This report describes a case of centronuclear myopathy which was considered to represent an example of severe x-linked myotubular myopathy [van Wijngaarden et al. 1969]. The neonatal period was dramatic with weak movements and respiratory problems. This was followed by a gradual improvement of muscle strength but he continued to have severe respiratory problems. At the age of four he developed the symptoms of a craniopharyngioma, which was operated upon. He died from respiratory failure two months after the operation.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
4/5. Myopathy limited to the quadriceps and gastrocnemius muscles occurring in three brothers.This is a report of three cases of myopathy limited to the quadriceps and gastrocnemius muscles, occurring in the male offspring of the same mother but two different fathers. They have many similarities to a previously described clinical syndrome called quadriceps-confined myopathy. The pedigree demonstrates an apparent sex-linked recessive condition which has not been demonstrated previously. Information gained from a review of the literature is related to these three cases. It is suggested that these cases are part of a poorly defined clinical entity and that a new classification of quadriceps-gastrocnemius muscular dystrophy be introduced.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
5/5. A familial visceral myopathy.A kindred contained at least 18 members with visceral myopathy. Sixteen had symptoms of chronic obstruction of the gastrointestinal or urinary tracts. Of six patients with megaduodenum on contrast roentgenograms, two were asymptomatic. Four patients had redundant colon on barium enema, and four had megacystis. Specimens from duodenum, jejunum, ileum, colon, or urinary bladder from five patients showed thinning and extensive collagen replacement of the longitudinal muscle layer; ganglion cells were normal by light and electron microscopy. Esophageal manometry in three patients showed decreased gastroesophageal sphincter pressures and no contractions in the smooth muscle segment of the esophagus; duodenal manometry showed a low frequency and amplitude of contractions. Three patients developed fever and signs of peritonitis after operations to bypass dilated segments. This seems to be a generalized smooth muscle disease with variable clinical manifestations and with an autosomal dominant or sex-linked dominant mode of inheritance.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |