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)

Two cases of myotonic muscular dystrophy manifested oro-facial disharmony and dento-labial dysfunction. Le Fort I osteotomy, sagittal osteotomy of the mandible, genioplasty and wedge excisions of the mucosa of the lower lip were performed on both patients. The desired results with regard to oro-facial appearance and dento-labial function were achieved in both patients after follow-up periods of six and twelve months.
 ...
PMID:Correction of myopathic face associated with myotonic muscular dystrophy. A case report. 26 51

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died at the age of 44 years, after 23 years of a "progressive muscular dystrophy." Acid maltase deficiency should be considered in the differential diagnosis of progressive respiratory insufficiency associated with weakness.
 ...
PMID:Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty. 26 57

The effects of diethylstilbestrol (DES) and prednisolone (Pr), administered alone or in combination, on the serum enzyme activities in Duchenne's muscular dystrophy (DMD) have been evaluated. When DES and Pr were given simultaneously to four boys with DMD, the mean creatine phosphokinase and lactate dehydrogenase levels fell to about one half those achieved with either agent alone. No untoward or unexpected side effects were encountered. These observations, and our previous demonstration that both agents reduce enzyme efflux from skeletal muscle, give promise that a safe combination therapy may be found to approximately normalize the serum in DMD. This will permit us to test the hypothesis that lowering the serum enzymes, by reducing their loss from skeletal muscle, will slow or arrest the muscle deterioration characteristic of this disease.
 ...
PMID:Effects of the simultaneous administration of diethylstilbestrol and prednisolone on serum enzymes in Duchenne's muscular dystrophy. 26 98

This was a brief 6-month study of the possible value of penicillamine in adult chickens with hereditary muscular dystrophy. Detailed histologic investigation of various parameters of muscle architecture yielded no evidence of significant therapeutic effect. Several serious toxic symptoms were noted. It is suggested that in muscular dystrophy, a disease in which the main feature is profound alteration of muscle structure, histologic studies may be the best means of documenting response to therapeutic agents.
 ...
PMID:Penicillamine in the therapy of hereditary muscular dystrophy in chickens. 28 18

A family is recorded in which Duchenne's muscular dystrophy and protan colour blindness are segregating. Of 4 members of the second generation at least one is a recombinant. The lod scores have been calculated and added to those already published.
 ...
PMID:Family in which Duchenne's muscular dystrophy and protan colour blindness are segregating. 30 Jul 90

We studied lymphocyte capping in 61 patients with Duchenne, Becker, limb-girdle, facioscapulohumeral and congenital muscular dystrophies. All showed a markedly diminished percentage of capped cells when compared with 86 normal controls, providing support for previous evidence that an alteration in membrane fluidity may be a common pathogenic feature in several genetically distinct forms of proximal muscular dystrophy. Heterozygous carriers of Duchenne muscular dystrophy showed diminished capping that was indistinguishable from that of afflicted males and was often present even when serum enzyme levels were normal. Studies in 25 families with 16 suspected sporadic cases indicated that no more than four out of 30 afflicted males may represent new mutations. These findings imply that most cases of Duchenne dystrophy might be prevented by a population screening program for carrier females combined with prenatal detection of afflicted males.
 ...
PMID:Systemic membrane defect in the proximal muscular dystrophies. 30 14

Epidermal growth factor (EGF) has been measured in extracts of submandibular glands from mice with hereditary muscular dystrophy. RIA results show that adult male and female dystrophic mice have significantly less submandibular gland EGF than do unafflicted controls. Despite the differences in gland content of the protein, serum levels of EGF are similar in both dystrophic and control animals. Furthermore, submandibular gland concentrations of amylase are normal in the dystrophic mice, indicating that not all proteins synthesized by the glands are affected. Gel filtration studied reveal that the elution properties of EGF in extracts of glands from dystrophic and control animals are indistinguishable. Unexpectedly, the chromatographic profiles indicate that most of the EGF in gland extracts elutes as a low molecular weight protein when the molecule is studied at low, biologically active concentrations; only a small portion of the protein is associated with a high molecular weight complex. Under the same experimental conditions, submandibular gland nerve growth factor maintains its association with other components in a high molecular weight form.
 ...
PMID:Epidermal growth factor in the submandibular gland and serum of mice with muscular dystrophy: chemical properties in dilute gland extracts. 31 79

Myotonic muscular dystrophy is an autosomal dominant disease inherited with variable penetrance. With pregnancy, the myotonia and muscle weakness may increase. There is also an increased incidence of abortion, prematurity, fetal death, labor dysfunction, and postpartum hemorrhage. A description of two pregnant patients and a review of the literature illustrate the interaction of the disease and pregnancy.
 ...
PMID:Myotonic muscular dystrophy in pregnancy. 32 9

This presentation reviews highlights of the first 20 years (1922-1942) of vitamin E. It begins with background information leading to identification of an antisterility factor for rats of both sexes and its acceptance into the vitamin family as vitamin E (1925). Research of the next 12 years revealed a multiplicity of deficiency manifestations: embryonic mortality, testis degeneration, encephalomalacia and exudative diathesis in the chick, and nutritional muscular dystrophy in avian and mammalian species. Toward the close of this period came the isolation of vitamin E from natural sources, determination of its empirical formula, and introduction of the designation alpha-tocopherol for vitamin E (1936). Within the next two years the structural formula of alpha-tocopherol was elucidated, its chemical synthesis accomplished, and its production from natural plant oils by molecular distillation was well established. The existence of other tocopherols with lesser degrees of biological activity became recognized. Also, the concurrent development of a chemical method for determining the vitamin E content of alpha-tocopherol in foods, body tissues and body fluids, which replaced the very laborious bioassay procedure, greatly facilitated later advances in knowledge of the distribution and nature of vitamin E.
 ...
PMID:The first two decades of vitamin E. 32 68

Two hereditary muscular dystrophies similar to human progressive muscular dystrophy (P.M.D. Duchenne type) have been isolated in animals, one in mouse, the other in chicken. The decrease in the activity of glycogenolytic enzymes is similar to that observed in denervated muscle. Isozymic fetal types for several muscular enzymes have been observed as well in chicken as in man, but this fetal type may also be found in neurogenic atrophy. The release in circulation of muscle enzymes seems more specific. But the origin of the genetic lesion is still unknown. We describe here the three different theories about this problem: i.e. neurogenic, vascular, or myogenic. This last theory implies a trouble of membrane permeability.
 ...
PMID:[Human myopathy and animal muscular dystrophy]. 33 59


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>