Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recent progress has resulted in part of the gene mutated in Duchenne and the milder Becker muscular dystrophies being cloned and has suggested that the gene itself extends over 1,000 to 2,000 kilobases (kb). To study how mutations in this gene affect muscle development and integrity, it would be of interest to have available a mouse model of the human disease. The mouse mdx mutation affects muscle and confers a mild dystrophic syndrome, but it is not clear whether this mutation is equivalent to Duchenne/Becker muscular dystrophy in man. Here we describe the use of two sequences from the human Duchenne muscular dystrophy (DMD) gene that cross-hybridize to mouse X-linked sequences to localize the gene homologous to DMD in the mouse. Both sequences map to the region of 10 centimorgan lying between the Tabby (Ta) and St14-1 (DxPas8) loci, close to the phosphorylase b kinase locus (Phk). By analogy with the human X-chromosome, we conclude that the region in the mouse around the G6pd and St14-1 loci may contain two genes corresponding to distinct human myopathies: Emery Dreifuss muscular dystrophy which is known to be closely linked to St14-1 in man and the DMD homologue described here.
 ...
PMID:Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome. 360 Jul 94

We have used light microscopic histomorphometry to quantify the developmental histopathological changes induced by muscular dystrophy in the soleus and extensor digitorum longus (EDL) muscles of the mdx mouse. We find that this X-linked disease exhibits early fibre necrosis with foci of invasive cells, clustering of affected fibres, hyaline fibres, and, in the mixed soleus muscle, a progressive increase in the proportion of type 1 fibres, the mdx soleus containing 58 +/- 5% type 1 fibres by 26 weeks, compared with 27 +/- 4% in control C57BL/10 ScSn mice. This increase is not due to atrophy or slow axon reinnervation of type 2 fibres. Although only 5% of all original fibres survive by 26 weeks in the EDL, the diseased mdx fibres are continuously and successfully replaced by new fibres with internal nuclei, the affected mice thus avoiding the end-stage histopathology and physical disability characteristic of the X-linked human Duchenne and Emery-Dreifuss muscular dystrophies. Homozygous mdx mice share the life expectancy of normal C57BL/10 mice and appear behaviourly normal. The mdx mouse is therefore an excellent mammalian model in which to study the processes of muscle fibre degeneration and regeneration.
 ...
PMID:Muscular dystrophy in the mdx mouse: histopathology of the soleus and extensor digitorum longus muscles. 361 80

Three patients are described with muscular dystrophy and contractures. Although this disorder bears similarities to Emery-Dreifuss disease and variants previously described, absence of cardiomyopathy is a distinguishing feature. Electrodiagnostic testing and muscle biopsy are consistent with a myopathy. An autosomal dominant pattern of inheritance is suspected, but the possibility of a Y-to-Y transmission cannot be completely excluded.
 ...
PMID:Benign muscular dystrophy with contractures: a new syndrome? 372 20

The severe Duchenne type of muscular dystrophy is inherited as an X-linked recessive trait. Approximately two thirds of healthy female heterozygous carriers have a high serum creatine kinase (SCK). A suspected carrier with a normal SCK level therefore, presents an important problem in genetic counselling. Based on Bayesian methods, Emery and Hollyway derived a formula which is applicable when the sporadic case is either the son or brother of a consultant and which also includes information on SCK levels in the consultant and in normal daughters and sisters. The present paper describes the results obtained with use of this formula in 27 families with at least a propositus with Duchenne muscular dystrophy.
 ...
PMID:[Estimation of the probability of heterozygosity in Duchenne-type progressive muscular dystrophy]. 728 70

Clinical, electromyographic, and muscle biopsy findings in the two largest known families with Emery-Dreifuss humeroperoneal muscular dystrophy indicate that this is an X-linked recessive muscle disease with stereotyped clinical manifestations but with variable pathological and electromyographic characteristics. Elbow contractures, involvement of humeral muscles, hyporeflexia, and abnormal electrocardiograms are present in our patients. The disorder is associated with a potentially lethal cardiac arrhythmia that should be managed by pacemaker insertion. The skeletal muscle disease is slowly progressive and is usually not life threatening. Muscle biopsy commonly shows type I fiber atrophy. Electromyography usually indicates myopathy, though the classic findings of myopathy may not be present in every muscle.
 ...
PMID:Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. 729 29

The muscular dystrophies are a group of inherited disorders that are clinically and genetically distinct. Genetic counselling is an essential part of the management of these patients. Molecular genetic techniques, in particular positional cloning but also now candidate gene analysis, have allowed the beginning of an understanding of the molecular pathology of these conditions. This is most advanced in Duchenne and Becker muscular dystrophy, where the gene and protein responsible have been fully defined, and analyses of the gene and protein can offer specific diagnostic and prognostic information, as well as more precise carrier counselling. Gene localizations are known for Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, three forms of 'limb-girdle' muscular dystrophy, severe childhood autosomal recessive muscular dystrophy and Fukuyama muscular dystrophy. Closely linked markers for Emery-Dreifuss and facioscapulohumeral muscular dystrophy can be helpful in the investigation of large families with these conditions. Abnormalities of two different proteins associated with dystrophin in the muscle fibre have been shown in severe childhood autosomal recessive muscular dystrophy and Fukuyama muscular dystrophy. The application of the techniques of molecular genetics to the muscular dystrophies has had an enormous impact, from enhancing understanding of the theoretical background of these diseases, to direct implications in their clinical management. These advances are likely to continue.
 ...
PMID:The muscular dystrophies. 795 55

The case of a 53-year-old patient with scapulo-humero-peroneal wasting, early flexion contractures of the elbows and ankles, abnormal cardiac conduction and probable X-related heredity is reported. Histology was suggestive of a primary and very slowly progressive muscular disorder. CT scan revealed fatty muscle degeneration which was more extensive than suggested by clinical findings. Electrophysiological studies revealed right atrial paralysis, left atrial tachycardia and supra and, above all, infra-His block. Sustained episodes of ventricular tachycardia, an anomaly described only rarely in pathology of this type, occurred some time after the fitting of a permanent pacemaker. The originality of this case of Emery-Dreifuss progressive muscular dystrophy lies in the usefulness of muscle CT scan and the existence of life-threatening arrhythmias.
 ...
PMID:[Emery-Dreifuss muscular dystrophy with major conduction disorders and cardiac excitability]. 811 51

Until now, patients with muscular dystrophy and concomitant cardiomyopathy have been accepted for heart transplantation only reluctantly, because of a higher perioperative risk caused by physical disability and a suspected rapid onset of cardiomyopathy of the transplanted heart. Of a total of 582 heart transplant recipients, six patients had muscular dystrophy associated with end-stage cardiomyopathy. In three patients, preoperative neurologic diagnostic investigation revealed type Duchenne muscular dystrophy (three male); one female patient had Emery-Dreifuss; one male patient had Becker-Kiener dystrophy, and the specific classification could not be established in one male patient. Mean age was 25 years, ranging from 9 to 45 years. The postoperative follow-up ranges from 10 months to 7 years, with a mean of 40 months. All patients received triple-drug immunosuppression, consisting of azathioprine, cyclosporine, and steroids. All patients had an uneventful postoperative course. Postoperative time of intubation was not prolonged in these patients compared to other patients. All patients are physically rehabilitated. One patient died suddenly 27 months after operation. Annual recatheterization studies showed normal left ventricular ejection fraction (59.5 +/- 13.4% SD). Signs of coronary artery disease could not be observed. No progression of preexisting muscular dystrophy could be diagnosed, until now.
 ...
PMID:Heart transplantation in patients with muscular dystrophy associated with end-stage cardiomyopathy. 824 Dec 18

The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterogeneous autosomal-recessive limb-girdle muscular dystrophy, the severe childhood autosomal-recessive muscular dystrophy, the merosin-positive and -negative congenital muscular dystrophies, the autosomal-recessive distal muscular dystrophy of Miyoshi, the facio-scapulo-humeral muscular dystrophy, and myotonic dystrophy, both the adult and neonatal variants. Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane.
 ...
PMID:Nondystrophinopathic muscular dystrophies including myotonic dystrophy. 879 45

The muscular dystrophies are a clinically and genetically heterogeneous group of skeletal muscle-wasting diseases that differ widely in their frequency and pattern of cardiac involvement. Myocardial disease manifesting predominantly as cardiomyopathy and congestive heart failure is characteristic of Duchenne and Becker muscular dystrophies and X-linked dilated cardiomyopathy, whereas conduction system abnormalities that cause heart block, arrhythmias, and sudden death are more commonly seen in limb-girdle type 1B, myotonic, and Emery-Dreifuss muscular dystrophies. Primary defects in the mechanical stabilization of the plasma membrane and signal transduction may underlie these two groups of muscular dystrophies. The identification of several new disease genes has yielded additional insights into the pathophysiology of muscular dystrophy. Molecular genetic and biochemical analyses of patient samples now permit accurate diagnosis and genotype-phenotype correlations. Ultimately, this knowledge will provide the foundation for etiology-specific gene therapy.
 ...
PMID:Dystrophies and heart disease. 924 91


<< Previous 1 2 3 4 5 6 7 Next >>