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

The form of dento-orofacial complex and masticatory muscle function of monozygotic twins with Duchenne type muscular dystrophy were investigated. They had no environmental difference. Morphological analysis were performed on the dental casts and cephalograms. EMG recordings were derived from the bipolar surface electrodes on the masseter muscle and the anterior belly of digastric muscle on the left side. Each consisted of the data for three years. Results obtained are as follows: 1) Based on the average data, these patients showed an elongated dental arch in the maxilla and mandible, which might be caused by enlarged tongues. There were little difference in the tooth and dental arch sizes between them. 2) Cephalometric findings indicated that the elder brother showed a clockwise rotation of the mandible with larger gonial angle than the younger brother. Both of them showed a larger gonial angle based on the mean values. 3) Analysis of EMG recordings revealed an elongated silent period induced by teeth tapping and chin tapping, and a variable masticatory rhythm compared with that of normal sample. Moreover an annually increased imbalance between masseter muscle and digastric muscle was evident, which were parallel to the change of the blood creatine kinase value. Differences in the form and function of orofacial complex between them might be caused by their polygene heredity and the large size of DMD gene (XP 21).
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PMID:[Morphological and functional analysis of dento-orofacial complex in monozygotic twins with Duchenne type muscular dystrophy]. 213 98

Enzyme histochemistry and acridine orange (AO) fluorescence techniques were used for studying muscle biopsy specimens of progressive muscular dystrophy in 75 cases. Five characteristic pathologic patterns for diagnosis were summarized. The level of serum CPK was be used as a marker for judging necrotic fibers. The result of AO staining showed that the number of regenerating IIc type fibers in DMD increased by 5-20%. This indicates that the numbers of the IIc type fibers are also related to necrotic fibers. The authors consider that the regenerative course is a compensatory repair reaction on necrotic fibers. But clinically, the speed of necrosis development is much higher than that of regeneration. Thus, enhancing the synthesis of proteins and promoting the capacity of regeneration should be considered as a new approach to effective therapy for DMD patients.
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PMID:[Pathohistology of progressive muscular dystrophy and the relationship between necrotic and regenerative fibers]. 227 5

DMD and BMD are now understood at the genetic, biochemical, and molecular levels. At the genetic level, both disorders result from mutations of the X-linked gene encoding dystrophin. At the biochemical level, DMD results from the deficiency of a large protein called dystrophin, whereas BMD results when dystrophin is present, though abnormal in either amount or molecular structure. To date, thousands of patients have been analyzed for mutations of the dystrophin gene in peripheral blood DNA or alterations of the dystrophin protein in muscle tissue. The severity of the clinical phenotype of these patients has been compared with their dystrophin gene mutations and corresponding dystrophin protein alterations, revealing an unexpectedly high degree of correlation. Thus, information derived from the molecular analysis (DNA or protein) of a particular patient provides a "molecular diagnosis," which is highly predictive of the clinical course that patient can be expected to follow. Because molecular diagnoses are independent of the patient's age, they provide a prognosis for the large majority of muscular dystrophy patients even before clinical symptoms of their disease become apparent. Such prognostic molecular diagnoses have proven particularly valuable when the patient is an isolated case, with no family history for the disorder. Prenatal genetic diagnosis of DMD or BMD may involve use of Southern blot or PCR techniques to search for a deletion in the DNA of at-risk fetuses or more complicated family linkage studies using intragenic and flanking RFLPs. More recently, assay of dystrophin content in fetal skeletal or cardiac muscle from at-risk abortuses has been accomplished, allowing definitive discrimination of affected and normal fetuses in cases in which deletion analyses and family DNA studies were equivocal. In utero fetal skeletal muscle biopsy for dystrophin protein assay has actually been accomplished in at least one at-risk pregnancy in which family DNA studies were uninformative. Dystrophin was present in skeletal muscle from this 20-week-old male fetus, and the pregnancy continued, resulting in the term birth of a healthy male infant. The future holds exciting opportunities for neonatal screening and treatment of these devastating neuromuscular diseases.
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PMID:Duchenne and Becker muscular dystrophies: genetics, prenatal diagnosis, and future prospects. 228 31

An autosomal recessive (AR) form of muscular dystrophy that clinically resembles Duchenne/Becker types exists, but its frequency is unknown. We have studied three unrelated affected brother/sister pairs and their families for deletions and polymorphisms with the entire dystrophin cDNA and other DNA probes from the Xp21 region to test for involvement of the DMD locus. In family 1 a large intragenic deletion was found in the affected male. The affected sister was heterozygous for this deletion, but the mother was not, implying germinal mosaicism. In family 2, no deletion was detected in the affected male. RFLP analysis revealed that the affected male and an unaffected sister shared a complete Xp21 haplotype while the affected sister had inherited a recombinant Xp21 region resulting from a crossover between pERT 87-15 and J-Bir. Only the 5' region of the dystrophin gene was shared with the affected boy. X-inactivation studies using a polymorphism in the 5'-flanking region of the HPRT gene, in conjunction with methylation-sensitive enzymes, revealed random X inactivation in the affected girl's leukocytes. In a muscle biopsy from the affected male, the dystrophin protein was present in normal amount and size. Family 3 was informative for four RFLPs detected with dystrophin cDNA probes which span the entire gene. The affected male was found to share the complete dystrophin RFLP haplotype with his unaffected brother, while his affected sister had inherited the other maternal haplotype. It is concluded that the clinical presentation of early-onset, progressive muscular dystrophy in a male and in his karyotypically normal sister can be caused by mutations at different loci. While in family 1 a deletion in the dystrophin gene is responsible, this gene does not appear to be involved in families 2 and 3.
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PMID:Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. 256 91

Most known mutations in the gene region responsible for Duchenne or Becker muscular dystrophy are deletions of varying extent. Here we describe a 220-kb insertion within the DMD/BMD gene that cosegregates with a somewhat atypical course of muscular dystrophy in a pedigree. The insertion is demonstrated by field-inversion gel electrophoresis as an enlarged SfiI fragment hybridizing to probe J-Bir, while neighboring SfiI fragments (detected by probes PERT 87 and J-66) are unchanged. Hybridization with DMD c-DNA probes did not reveal alterations in coding sequences. In this pedigree, the altered SfiI fragments provide convenient markers for carrier identification.
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PMID:Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muscular dystrophy. 256 31

Treatment in muscular dystrophy should be prospective and aimed at maintaining maximal function so that the patient can be as independent as possible for as long as possible. DMD must be diagnosed early, not only to enable genetic counseling concerning future pregnancy and screening of female siblings, but also to stage physical therapy to delay muscle contracture. Surgery, when indicated, should anticipate realistic functional goals (standing, walking, transfer), and enable immediate postoperative mobilization. Bracing should be suitably provided and orthoses appropriately constructed to assure maximal support with minimal weight. Spinal deformity must be prevented when feasible and appropriately treated when present. Maximal function in wheelchair-confined patients can be enhanced through the use of an apparatus that encourages proper sitting posture and utilizes residual strength. Complications must be anticipated and vigorously treated. Attention should be paid to the psychic as well as the somatic aspects of this disease. Optimal treatment of the patient with DMD should be multidisciplinary, aggressive, and conducted in an atmosphere of intelligent concern. This approach minimizes the frustrating aspects of DMD while it maximizes the benefits obtained through available care. In this manner, the quality of life for the patient with muscular dystrophy can be significantly enhanced and his life expectancy extended.
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PMID:Update on Duchenne muscular dystrophy. 265 Sep 76

In the preceding paper a sensitive Western blotting analysis system based on the use of a monoclonal antibody to dystrophin was described. Here we report the immunoreactivity on blots and on unfixed frozen sections of muscle from patients with Duchenne (DMD) and Becker (BMD) muscular dystrophy. Muscle from 3 BMD patients showed variation both in the band pattern observed on blots and in the immunocytochemical labelling of dystrophin on frozen sections. In contrast to previous reports, we were able to detect some minor dystrophin bands on blots from 6 of 9 DMD biopsy samples. Tissue sections from 8 of the 9 contained isolated fibres with dystrophin-positive labelling. We conclude that the majority of DMD patients have muscle fibres which can synthesize dystrophin in a limited manner.
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PMID:Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy. 269 18

Muscular dystrophy patients fall in respiratory failure in the terminal stage. Erythrocyte 2,3-diphosphoglycerate (2,3-DPG) is an important regulator of oxygen release, as it affects the position of the oxyhemoglobin dissociation curve. In order to survey the internal respiration in these patients, we studied the erythrocyte 2,3-DPG which regulates oxygen transport function. The concentration of erythrocyte 2,3-DPG was determined in 27 cases with Duchenne type muscular dystrophy and 10 cases with myotonic dystrophy (MyD). We analyzed the relation of erythrocyte 2,3-DPG to spirogram, arterial blood gas and acid-base analysis in these patients. 14 normal males were used as controls. In control subjects, the mean concentration ratio of 2,3-DPG and hemoglobin (DPG/Hb) was 0.880 +/- 0.072. 18 cases of DMD and 9 of MyD, which showed more than 45 torr of Pco2 in arterial blood gas, revealed 0.823 +/- 0.053 and 0.814 +/- 0.092 of DPG/Hb respectively. These values were significantly lower than that of controls. DPG/Hb correlated to % VC, Pao2, Paco2, pH, HCO3 and BE in DMD, but no relation to these parameters in MyD. The low ratio of DPG/Hb in erythrocyte was considered to be metabolic compensation of respiratory failure in DMD. On the other hand, 2,3-DPG of MyD seemed to be also affected by any other factors in addition to respiratory failure.
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PMID:[Erythrocyte 2,3-diphosphoglycerate in muscular dystrophy]. 275 52

Cloning of a DNA segment including the translocation breakpoint in a female with an X;21 translocation and X linked muscular dystrophy has led to identification of three subclones which detect polymorphic markers. The alleles of these markers, XJ1 X 1, XJ1 X 2, and XJ2 X 2, are in strong linkage disequilibrium. Linkage analysis in 31 families with Duchenne or Becker muscular dystrophy has shown recombination within the XJ segment in one case, and recombination of DMD with both the XJ segment and the pERT87 segment in a second, but has revealed no recombination between the XJ and pERT87 segments. The XJ markers increase the proportion of DMD and BMD families that are informative for carrier detection and prenatal diagnosis, but in view of the risk of recombination they must be used with caution. The site(s) of the DMD mutation(s) relative to the XJ and pERT87 markers, and the detailed molecular structure of the DMD region, remain to be determined.
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PMID:Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy. 287 26

Deletions in the gene sequence for Duchenne (DMD) and Becker (BMD) muscular dystrophy were detected in affected males with four cDNA probes, Cf56a, Cf23a, Ca1A, and Cf27. Most of the deletions were seen with only one of the probes. Cf23a detected all BMD deletions seen with Cf56a and some that were not. The same markers also detected restriction fragment length polymorphisms for those cases where deletions were not evident. The probes were also used successfully for prenatal diagnosis in two families each with two DMD affected males. In DMD families successive application of probes Cf56a, Ca1A, and Cf27 will give a 70% chance of detecting the mutation. BMD families should first be screened with the Cf23a probe.
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PMID:Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. 289 Sep 1


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