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

Freeze fracture analysis was carried out on the density of orthogonal array subunit particles in the plasma membrane of skeletal muscle of six patients with Fukuyama type congenital muscular dystrophy and seven control cases. The group mean density of orthogonal array subunit particles per one orthogonal array was significantly lower in the plasma membrane of Fukuyama patients. The results suggested the possible impairment of orthogonal array function in the plasma membrane of muscle fibers in congenital muscular dystrophy of the Fukuyama type.
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PMID:Small size of orthogonal array in muscle plasma membrane of Fukuyama type congenital muscular dystrophy. 382 12

Muscle biopsies from 10 Japanese patients (9 females and 1 male) with congenital muscular dystrophy (CMD) were studied. Their clinical features varied remarkably in severity; one patient died at 6 years of age. Family history was negative in all but one patient who had an affected sibling. Muscle biopsy findings varied from mild myopathic to advanced dystrophic changes. Hypertrophic fibers associated with occasional fiber splitting were assumed to reflect a chronic dystrophic process. Histochemical examination revealed type 1 fiber predominance in 5 patients, and type 2 fiber predominance in one. Eight patients had a slight to moderate increase in the number of undifferentiated type 2C fibers suggesting a regenerating process after fiber necrosis. Type 2B fibers were fairly well preserved in 8 patients. The overall findings differed from those of the Fukuyama type congenital muscular dystrophy (FCMD) and Duchenne muscular dystrophy (DMD) in which more active fiber necrosis and regeneration are seen. We conclude that the present CMD patients suffered from a chronic dystrophic process similar to that in limb-girdle muscular dystrophy.
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PMID:Congenital muscular dystrophy. A histochemical study with morphometric analysis on biopsied muscles. 405 19

Muscles from 13 patients with clinical characteristics of congenital muscular dystrophy and central nervous system involvement (Fukuyama type) (FCMD) were examined using morphometric and fiber type analysis. The muscles from patients aged 5 months to 3 years demonstrated small-calibered fibers with increased variation in fiber size, connective tissue proliferation, and scattered necrotic and regenerating fibers. Groups of atrophic fibers were absent. Both type 1 and type 2 fibers were affected, though type 1 fibers predominated and type 2B fibers decreased as the disease progressed. The muscle changes were apparently progressive, affecting not only the limbs but also the intercostal, diaphragm, and cardiac muscles. Although there was no qualitative difference in the muscle histochemistry between FCMD and Duchenne muscular dystrophy (DMD), there was a greater proportion of type 2C fibers and fibrosis was present at the early infantile stage of FCMD.
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PMID:Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement. 646 28

Two Dutch siblings, diagnosed as suffering from Fukuyama type congenital muscular dystrophy (FCMD) on the basis of clinical, computerized tomography (CT), and muscle and brain biopsy findings, are reported. Hypoplasia of the chorioidea was observed for the first time in FCMD. Autopsy of the first case revealed the major pathological changes of FCMD, i.e. micropolygyria, loss of cytoarchitecture, hypoplasia of the pyramidal tract, leptomeningeal thickening. Heterotopias of nervous tissue in the spinal arachnoidal spaces were found. This is the first case in which brain tissue has been investigated on two separate occasions. In the biopsy specimen--at the age of 14 months--myelination was poor and astrogliosis marked. At autopsy--4 years later--myelination proved to be only slightly less than normal. However, white matter hypodensities on the successive CT's did not change. There is no ready explanation for this discrepancy. Typical FCMD is compared to FCMD-like cases from outside Japan. There are arguments in favor of the concept of a continuum of diseases--with the same (unknown) etiology--representing both typical FCMD and other types of congenital muscular dystrophy with CNS lesions.
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PMID:Fukuyama type congenital muscular dystrophy--two Dutch siblings. 649 76

A vertical infection system in hamsters produced by inoculating with Akabane virus was established as an experimental model of congenital muscular dystrophy (Fukuyama type) (FCMD) and arthrogryposis multiplex congenita (AMC) in humans. Swollen fetuses, mummified fetuses, arthrogryposis and cranial deformities were produced in 13 of 415 newborn hamsters inoculated transplacentally (3.1%). The incidence was significantly higher than that in the control group (p less than 0.05). Eight cases presenting apparent abnormalities were examined histologically and virologically. Pictures of skeletal muscles showing such immature features as chains of internal nuclei and myotubular muscle fibers were demonstrated in all cases. In addition, perivascular infiltration of small round cells and thickening of vascular walls were seen in 5 cases, while myogenic changes such as broken myofibrils, small muscle fibers and changes in fiber size were observed in 6 cases. In the anterior horn of the spinal cord, swelling and loss of nuclei and cell matrices were noticed in 4 cases. In the cerebral cortex, disarrangement of cell layers, edematous changes and loss of nerve cells were revealed in 5 cases. In 4 cases virus particles were found on electron microscopy in the cerebral cortex. The authors considered that this experimental system of intrauterine viral infection would be useful for the etiological study of FCMD and AMC in humans in which not only skeletal muscles but also the central nervous system is affected congenitally.
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PMID:Experimental intrauterine infection of akabane virus. Pathological studies of skeletal muscles and central nervous system of newborn hamsters with relevances to the Fukuyama type congenital muscular dystrophy. 678 96

The Fukuyama type congenital muscular dystrophy (FCMD), which was firstly described by one of the authors in 1960, is now recognized as an independent subtype of progressive muscular dystrophy in Japan. Recent advances in clinical, pathological and etiological studies of this syndrome were extensively reviewed. A long-term observation on a large number of cases revealed a wide spectrum of clinical features and courses, and comprehensive laboratory examinations including cranial computed tomography disclosed several new findings. A sharp dichotomy exists in the study of etiology; the genetic or intrauterine infection theories, with reasonable grounds for each. The most conspicuous is the fact that FCMD had been seldom described in countries other than Japan. If attention and interest on FCMD expand in a worldwide scale, the elucidation of basic pathogenesis of this disorder will be facilitated rapidly.
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PMID:Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations. 725 47

A patient with non-Fukuyama type merosin-positive congenital muscular dystrophy (nonFCMD) who had severe muscle weakness leading to early death was reported. He was the first product of epileptic mother who had been placed on phenobarbital and phenytoin. The patient had severe respiratory failure and muscle weakness at the neonatal period, and died at 4 months of age. Multiple joint contractures were also noted at birth. Serum creatine kinase was within normal limits (123 IU/l). Electromyography showed a myogenic pattern. Brain computed tomographic (CT) scan and magnetic resonance imaging (MRI) were normal without white matter lucency or pachygyria. Muscle biopsy revealed dystrophic changes and type 2C fiber predominance. Dystrophin, dystrophin-associated glycoproteins and merosin were all positively demonstrated. Although patients with merosin-positive nonFCMD have relatively mild clinical course, our patient had severe muscle weakness with fatal outcome. Defect in muscle fiber maturation and differentiation, such as an increase of undifferentiated type 2C fibers, may be a major factor to influence muscle symptoms in non FCMD.
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PMID:[Non-Fukuyama type merosin-positive congenital muscular dystrophy with delayed muscle fiber type differentiation: a case report]. 761 93

Muscle-Eye-Brain disease (MEB) and Fukuyama type congenital muscular dystrophy (FCMD) are clinically similar autosomal recessive diseases, characterized by congenital muscular dystrophy and severe mental retardation, raising the possibility that they might be caused by mutations of the same gene. Recently FCMD was localized to chromosome 9q31-33 by linkage. We performed a linkage study in seven Finnish MEB families with 12 affected patients using markers D9S53, D9S58, D9S59 and HXB. The MEB phenotype was not linked to any of the markers. A multipoint linkage analysis excluded the entire region harboring FCMD. We thus conclude that MEB and FCMD are not allelic.
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PMID:Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. 763 87

Fukuyama-type congenital muscular dystrophy (FCMD), the second most common childhood muscular dystrophy in Japan, is characterized by the association with severe brain anomalies such as pachygyria and focal interhemispheric fusion. Conventional imaging techniques such as X-ray CT scan and MRI are ineffective for visualization of these brain surface anomalies. Here we investigated the efficacy of three-dimensional (3-D) reconstruction of brain surface MR images for the detection of brain anomalies in FCMD patients. 3-D brain surface MR images clearly visualized anomalies of cerebral gyrus such as pachygyria, as well as focal interhemispheric fusion. In addition, reconstructed horizontal images visualized structural derangement such as abnormal protrusion of white matter into gray matter. MR image abnormalities were confirmed by autopsy in 1 patient. These abnormalities were never observed in Duchenne muscular dystrophy (DMD) patients. Our results indicate the efficacy of the present method for the differential diagnosis between FCMD and DMD with severe mental retardation, which is essential for the genetic study to identify the causative gene of FCMD.
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PMID:Three-dimensional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy. 773 38

Both Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS) are unusual genetic syndromes consisting of congenital muscular dystrophy and complex malformations of the brain and eye. It has been intensively discussed whether FCMD and WWS belong to the same disease entity or not. We analyzed a family in which 3 siblings were affected with either FCMD or WWS by using polymorphic microsatellites flanking the FCMD locus on chromosome 9q31-33. The results suggested that both FCMD and WWS siblings shared the identical combination of mutations on either allele of the FCMD locus. FCMD and WWS could be "genetically" identical.
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PMID:Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. 781 65


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