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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One of female MZ twins presented with muscular dystrophy. Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy (DMD). However, because of her sex she was diagnosed as having limb-girdle muscular dystrophy. With cDNA probes to the DMD gene, a gene deletion was detected in the twins and their mother. The de novo mutation which arose in the mother was shown by novel junction fragments generated by HindIII, PstI, or TaqI when probed with cDNA8. Additional evidence of a large gene deletion was given by novel SfiI junction fragments detected by probes p20, J-Bir, and J-66 on pulsed-field gel electrophoresis (PFGE). Immunoblot analysis of muscle from the affected twin showed dystrophin of normal size but of reduced amount. Immunofluorescent visualization of dystrophin revealed foci of dystrophin-positive fibers adjacent to foci of dystrophin-negative fibers. These data indicate that the affected twin is a manifesting carrier of an abnormal DMD gene, her myopathy being a direct result of underexpression of dystrophin. Cytogenetic analysis revealed normal karyotypes, eliminating the possibility of a translocation affecting DMD gene function. Both linkage analysis and DNA fingerprint analysis revealed that each twin has two different X chromosomes, eliminating the possibility of uniparental disomy as a mechanism for DMD expression. On the basis of methylation differences of the paternal and maternal X chromosomes in these MZ twins, we propose uneven lyonization (X chromosome inactivation) as the underlying mechanism for disease expression in the affected female.
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PMID:Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. 218 Feb 86

Three inherited abnormalities of muscle growth of poultry are an inherited muscular dystrophy of the chicken, deep pectoral myopathy of turkeys and broilers, and focal myopathy of turkeys. The major features of each are described and compared. Cellular and molecular bases of dystrophy of the chicken and treatments to alleviate the disorder are discussed. The pathologic progression and anatomical basis for deep pectoral myopathy are presented. Evidence is given that focal myopathy of the turkey is a growth-dependent disorder. The implications of the idea that such disorders are partly consequences of selection are discussed in the context of the future needs of a poultry industry emphasizing processing of poultry meat.
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PMID:Developmental and maturational aspects of inherited avian myopathies. 219 Feb 38

We present 3 patients with congenital inflammatory myopathy and summarize the literature. CNS involvement (microcephaly/intellectual delay) may or may not be present. Serum creatine kinase activity is elevated, the EMG is myopathic, and the muscle biopsy reveals inflammatory infiltrates, muscle fiber damage, and class I major histocompatibility complex products in muscle sarcolemma. Possible etiologies include intrauterine viral infection or an autoimmune process. Treatment with steroids may result in some motor improvement but has no effect on the CNS involvement. Despite a common time of presentation, these patients have a heterogeneous clinical profile, often suggesting a congenital muscular dystrophy syndrome.
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PMID:Congenital inflammatory myopathy. 219 2

A young woman with humeroperoneal muscular dystrophy and contractures received a heart transplant for a severe dilated cardiomyopathy. Cardiac histopathology consisted of myocyte hypertrophy, interstitial fibrosis, and nuclear hyperchromaticity without mitochondrial abnormalities. Myopathy and heart disease were not clinically evident in her family, although three relatives had unexplained shortened Achilles tendons without weakness. Tendon contractures may be a partial expression of this myopathic disorder, suggesting an autosomal dominant inheritance with variable penetrance. A muscular dystrophy clinically similar to that of the Emery-Dreifuss (EDMD) type can thus occur in women. Rather than the cardiac arrhythmias typical of EDMD, a dilated cardiomyopathy may occur and present with severe congestive heart failure. This is the first report of cardiac transplantation in such a case.
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PMID:Cardiac transplantation in female Emery-Dreifuss muscular dystrophy. 223 Aug 49

Muscle structure and blood enzyme activity were studied to 16 wk of age in lines of turkeys selected for rapid growth. The body and carcass weights were measured, frozen sections of breast and leg muscles examined, and plasma creatine kinase (CK) levels determined. Muscle weights were usually proportional to BW except for the relatively larger superficial pectoralis (SP) muscles in the most rapidly growing line. Damaged muscle fibers were found in all muscles examined, especially in the SP of the breast, the gastrocnemius (GA), and other muscles of the leg; these damages became more common from 10 to 16 wk of age. There were more degenerating muscle fibers and higher levels of plasma CK in the rapidly growing lines than in a slower growing unselected line. The findings support the idea that a focal myopathy, unrelated to deep pectoral myopathy or to inherited muscular dystrophy of the chicken, is associated with rapid growth of turkeys.
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PMID:Turkey muscle growth and focal myopathy. 224 18

Magnetic resonance imaging of the lower extremities was performed with a low field system in 51 patients representing three different categories of biopsy-proven primary skeletal muscle disease; muscular dystrophies, congenital myopathies and polymyositis. The intermuscular distribution of abnormal signal intensity and the grade of involvement of individual muscles were assessed. Large differences in the degree of pathological signal intensity between individual muscles were found in all categories. In the muscular dystrophy and polymyositis patients, the overall involvement was significantly more severe than in patients with congenital myopathy. Definite patterns of selective involvement were seen. Statistical evidence of selective muscle sparing was found; the gracilis muscle was significantly less affected than the other muscles in all three disease groups. Other muscles with significant sparing include the rectus femoris and sartorius muscles of the thigh and the tibialis posterior muscle of the leg. Common anatomical and functional characteristics of muscles may be related to the distribution of muscular disease.
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PMID:Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement. 226 64

The inflammatory forms of facioscapulohumeral myopathies are rare. In a series of 52 cases, six patients had these types. Only four cases could be investigated with immunochemical staining (immunoperoxidase). Monoclonal antibodies reactive for B cells, T4 cells, T8 cells, natural killer cells were used for cell typing. Macrophages were identified by the acid phosphatase reaction. Nine muscles have been used as controls: 3 normal muscles, 3 polymyositis and 3 dermatomyositis. In all these inflammatory myopathies T cells were the most abundant cells. NK cells were rare. In inflammatory FSH-D and in polymyositis the infiltrates were principally endomysial, whereas T8 lymphocytes were more abundant than T4 lymphocytes; it was the contrary in the perivascular and perimysial sites of accumulation. In dermatomyositis the infiltrates were especially perivascular. In this site of accumulation T4 was twice abundant than T8, B cells and macrophages were also very abundant. In the endomysium the T8 cells were more numerous than T4 cells. It seems that the inflammatory forms of FSH-D should be considered as an inflammatory myopathy. In these forms a polymyositis should be associated with the dystrophy. These forms could be considered as an association of a polymyositis and a muscular dystrophy, but the circumstances of their appearance and their non-response to corticosteroid administration remain to be determined.
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PMID:[Immunocytochemical study of the inflammatory forms of facioscapulohumeral myopathies and correlation with other types of myositis]. 266 Aug 10

The authors emphasize the importance of adding a genetic criterion to the definition of Duchenne dystrophy. The clinical characteristics, however, on the basis of recent molecular genetic studies, are sufficiently precise to make the condition heterogeneous: two types of Duchenne dystrophy, with or without mental retardation in affected boys; muscular dystrophy in girls with mild symptomatic weakness in "manifesting carriers" up to severe myopathy in girls, found to be associated with reciprocal chromosomal translocation (X-autosome), always at the same site, Xp21. Diagnostic use of Xp21 probes is now as necessary as EMG, muscle biopsy and serum CK assay for the definition of Duchenne muscular dystrophy.
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PMID:[Present-day clinico-genetic framework of Duchenne's muscular dystrophy]. 266 13

Magnetic resonance imaging was performed in 8 patients with muscle disease and 6 normal controls. High intensity areas of varying dimensions were found in thigh muscles of the patients with progressive muscular dystrophy (PMD) and congenital myopathy. Shortened T1 and prolonged T2 values with disease progression were characteristic. The T1 values were variable and prolonged, T2 values were more characteristic of progressive muscular degeneration. The T1 value may help to detect the early stage of PMD. Magnetic resonance imaging is useful in detecting the muscle lesions in PMD and essential for selection of a biopsy site.
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PMID:MR imaging of myopathy. 274 90

Clinical features of a rare congenital myopathy, muscle-eye-brain (MEB) disease, are described in 19 patients. The pedigree data suggest an autosomal recessive inheritance. The patients presented with congenital hypotonia and muscle weakness. Serum CK was elevated, EMG was myopathic and muscle biopsy showed slight or moderate changes compatible with muscular dystrophy. Ophthalmological findings included severe visual failure and uncontrolled eye movements associated with severe myopia. The flash VEPs were exceptionally high, whereas non-corneal ERG was unrecordable. The EEG showed progressive abnormalities after the age of 6 months. Psychomotor development was slow during the first years of life, and mental retardation was severe. Most patients began to deteriorate around age 5 years. This change included spasticity and joint contractures. CT scans showed ventricular dilatations and abnormally low white matter density in several patients. Spasticity, high VEPs and ocular manifestations differentiate MEB from the Fukuyama type congenital muscular dystrophy.
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PMID:Muscle-eye-brain disease (MEB) 236 Jul 4


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