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

Duchenne muscular dystrophy is the second most common lethal genetic disorder in humans. With the advent of molecular genetic technology, the definition of this disease has been modified to include an abnormality of dystrophin in muscle--a dystrophinopathy. Accurate genetic counseling is possible using methods of deletion detection and linkage analysis. Treatment of this type of muscular dystrophy may soon mean the routine use of steroids and later include direct injection of an artificial gene for dystrophin.
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PMID:Current status of Duchenne muscular dystrophy. 163 10

Neurofibromatosis (NF), also known as von Recklinghausen's disease, is a prevalent genetic disorder--as common as cystic fibrosis and Down's syndrome and twice as prevalent as muscular dystrophy; it occurs in approximately one of 3000 live births. NF often involves the eyes and visual pathways; many NF patients first present early in life because of ocular complaints. But, because mental retardation can be a complication of the disease, such patients are difficult to examine and, as a result, the disease is sometimes not recognized. The purpose of this paper is to provide an overview of the condition along with a case report of an eight year old child with NF.
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PMID:Clinical review of neurofibromatosis. 211 55

The etiology of avian muscular dystrophy was examined by a cross-transplantation technique. Care was taken for the transplants to regenerate and develop under neural influence, by using the small extensor carpi radialis longus (ECRL) muscle. The ECRL muscles were exchanged between normal and dystrophic chicks 2 to 3 days ex ovo, and the muscle weight, number of muscle fibers, muscle fiber size, and contractile properties of the transplanted muscles were observed 60 to 65 days after operation when the tissue reconstitution was virtually complete. The results obtained for the physiologic, anatomic, and histologic parameters strongly suggested that there exists some failure in the host environment of the dystrophic chicken. The analyses of the histologic parameters suggested that a genetic disorder may also reside in the muscle tissue itself. The myotonic nature of the muscle membrane, however, probably does not contribute significantly to the abnormal behavior of dystrophic chickens. The importance of some neurogenic abnormalities in avian muscular dystrophy is discussed in relation to the results reported by other investigators.
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PMID:Transplantation of extensor carpi radialis longus muscle in normal and dystrophic chicks. 669 75

Myotonic muscular dystrophy (MyD) is a systemic genetic disorder that is thought to result from a generalized cellular membrane defect although the exact nature of this defect is unknown. This study examines two calcium-dependent membrane processes that have been observed in erythrocytes from healthy individuals: calcium-stimulated phosphatidic acid accumulation and calcium-induced potassium leak. We find that erythrocytes from MyD patients, in contrast to controls, have markedly impaired phosphatidic acid accumulations while maintaining normal potassium leaks. The calcium uptakes and ATP contents of MyD erythrocytes are not different from controls. We conclude that phospholipid metabolism is altered in MyD erythrocytes. The specificity of this abnormality and its relationship to altered muscular function are not known.
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PMID:Myotonic muscular dystrophy: defective phospholipid metabolism in the erythrocyte plasma membrane. 741 May 51

Tuberous sclerosis is a multi-system genetic disorder affecting up to one in 6000 newborn infants. It is about one third as common as cystic fibrosis, and half as common as Duchennes muscular dystrophy, yet many doctors and health professionals are ill-acquainted with the condition. Parents who turn to medical text books for information find only a brief mention of a few, frequently out-dated facts. Antonia Clarke and John Osborne describe the symptoms of the disorder and the special needs of affected children and their families.
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PMID:Tuberous sclerosis: how to recognise this challenging disorder. 782 31

Plectin is a widely expressed cytomatrix component involved in the attachment of the cytoskeleton to the plasma membrane. We have recently reported that the skin and muscles of three patients affected by epidermolysis bullosa simplex with muscular dystrophy (MD-EBS), a genetic disorder characterized by skin blistering associated with muscle involvement, are not reactive with antibodies specific to plectin. We demonstrated that in the skin, lack of plectin leads to failure of keratin filaments to connect to the plasma membrane via the hemidesmosomes, whereas in the muscle the deficient expression of the molecule correlates with an aberrant localization of desmin in the muscle fibers. In this study we demonstrate that in a MD-EBS kindred with two affected members, the disease results from a homozygous nonsense mutation in the plectin (PLEC1) gene leading to a premature stop codon (CGA to TGA) and decay of the aberrant plectin messenger RNA. The segregation of the mutated allele implicates the mutation in the pathology of the disorder. These results confirm the critical role of plectin in providing cell resistance to mechanical stresses both in the skin and the muscle.
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PMID:A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. 894 34

Walker-Warburg syndrome is an autosomal-recessive genetic disorder characterized by congenital muscular dystrophy in association with complex developmental abnormalities of the central nervous system and the eyes. Two patients with Walker-Warburg syndrome are presented to demonstrate clinical variability. Previously unreported pathologic findings involving heart, muscle, spinal cord, and gall bladder are described, and the literature is reviewed. Histopathologic studies of the muscle membrane protein network in both Walker-Warburg syndrome patients reveal a decreased immunostaining for laminin alpha2 and beta-dystroglycan. The clinical, histologic, and biochemical variability in Walker-Warburg patients may reflect heterogeneity.
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PMID:Walker-Warburg syndrome: neurologic features and muscle membrane structure. 949 98

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by an insidious onset and progressive course. The disease has a frequency of about 1 in 20,000 and is transmitted in an autosomal dominant fashion with almost complete penetrance. Deletion of an integral number of tandemly arrayed 3.3-kb repeat units (D4Z4) on chromosome 4q35 is associated with FSHD but otherwise the molecular basis of the disease and its pathophysiology remain obscure. Comparison of mRNA populations between appropriate cell types can facilitate identification of genes relevant to a particular biological or pathological process. In this report, we have compared mRNA populations of FSHD and normal muscle. Unexpectedly, the dystrophic muscle displayed profound alterations in gene expression characterized by severe underexpression or overexpression of specific mRNAs. Intriguingly, many of the deregulated mRNAs are muscle specific. Our results suggest that a global misregulation of gene expression is the underlying basis for FSHD, distinguishing it from other forms of muscular dystrophy. The experimental approach used here is applicable to any genetic disorder whose pathogenic mechanism is incompletely understood.
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PMID:Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. 1053 77

Duchenne's muscular dystrophy is a genetic disorder whose features include abnormal responses to muscular relaxants and possible respiratory dysfunction after general anesthesia. The purpose of this report is to describe one management strategy used successfully to anesthetize an obese man with this disorder for atypical mastectomy. The anesthetic management during surgery involves epidural anesthesia using 2% mepivacaine and general anesthesia using the cuffed oropharyngeal airway. Postoperatively 0.25% bupivacaine was infused for epidural analgesia. The patient was observed in the intensive care unit until the first postoperative day and showed an uncomplicated intra- and post-operative course.
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PMID:[Epidural anesthesia and general anesthesia using the cuffed oropharyngeal airway for an obese patient with Duchenne's muscular dystrophy]. 1065 17

The pedigrees of 192 subjects at risk of Duchenne or Becker muscular dystrophy, myotonic dystrophy, or balanced chromosome translocations attending three regional genetic clinics were inspected to identify relatives who were themselves at high risk of these disorders. Of the 342 relatives eligible for inclusion, 43% (63/147) of the register relatives and 26% (50/195) of the non-register relatives had had contact with the clinical genetic services, a significant difference (p<0.02). Relatives from families with muscular dystrophy were significantly more likely to have been in contact with genetic services than those from BT families. Fifty-two relatives were interviewed about their experience and attitudes regarding genetic counselling. Almost all regarded knowledge about the family genetic disorder as helpful, and only one thought it unacceptable for relatives to be informed that they are at risk; 94% thought it was acceptable for this information to come from family members, 92% from general practitioners, and 90% from the clinical genetic service. A majority of relatives (53%) thought it was the family's responsibility to pass on genetic risk information, but 22% said the genetic service should be responsible and 18% thought it should be the GP. These data, together with the findings from the study of probands attending genetic clinics for these disorders, indicate that the genetic register approach incorporating long term follow up and a proactive approach to genetic counselling is acceptable to the families concerned and improves access to genetic services for at risk relatives.
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PMID:Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients. 1247 Dec 23


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