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

The special medical care in the National Sanatorium prolonged the life span of the patients with progressive muscular dystrophy from 15.8 years to 20.4 years over the last 20 years. Various new drug trials for muscular dystrophy have been implemented in the last 12 years in Japan. Bestatin and Loxistatin, protease inhibitors, showed definite improvement on dystrophic mice or hamsters, animal models of muscular dystrophy. However clinical application of these drugs failed to prove the effects on patients with Duchenne muscular dystrophy. The difficulty of clinical evaluation and judgement of effects in progressive neurological diseases is discussed.
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PMID:Therapeutic trials on progressive muscular dystrophy. 145 Apr 92

Studies were made on whether body weight loss in patients with muscular dystrophy is due to reduced intake and/or abnormal expenditure of energy. For this, food intakes and various physiological variables were surveyed in totals of 310 patients with Duchenne muscular dystrophy (DMD) of 11 to 29 years old and 28 patients with limb-girdle muscular dystrophy (LGMD) of 30 to 47 years old. Energy and protein intakes, expressed on a unit body weight basis, in DMD patients were comparable to, or higher than the allowances for age-matched healthy controls, whereas those in LGMD patients were 92 and 94% respectively of these allowances. The basal metabolic rate (BMR), expressed as kcal/kg/day, of DMD patients of all ages was higher than that of controls, the difference increasing with age, and being about 20 to 30% higher than that of controls in older patients with DMD. The BMR of LGMD patients was nearly normal. The maintenance requirements of conventional dietary protein in DMD and LGMD patients were 1.26 and 0.84 g/kg/day, respectively. These values were about 68 and 12% higher than the normal adult value (0.75 g/kg/day), indicating decreased protein utilization and increased protein catabolism. Daily excretion of urinary 3-methylhistidine (3MH) per unit muscle mass (micrograms/mg creatinine) by MD patients was significantly higher than that by controls, indicating increased degradation of muscle protein. The BMR, maintenance protein requirement and 3MH excretion of DMD patients suggest that DMD is a hypercatabolic disease. Comparison of the energy and protein intakes with the allowances estimated in consideration of increased requirements showed deficiencies of energy and protein in DMD patients. Thus, we conclude that the underweight of the DMD patients resulted from nutrient deficiencies due to hypercatabolism, despite their considerably high intakes of energy and protein, expressed as per kg body weight. These deficiencies were confirmed by demonstrating decreased concentrations of free essential amino acids, particularly branched chain amino acids, in their serum. The values of variables of LGMD patients were intermediate between those of DMD patients and control subjects.
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PMID:Protein and energy metabolism in patients with progressive muscular dystrophy. 150 20

Two hundred seventy-three Muscular Dystrophy Association (MDA) clinic directors and codirectors of 167 of the 220 clinics responded to a survey designed to study patterns of use of mechanical ventilation. Ventilatory assistance was recommended and used on an elective basis in 43 of the 167 clinics. In 68 clinics, the policy was to discourage its use, and 62 clinics were managing no ventilator users at the time of the survey. The most common reason given for discouraging ventilator use was poor patient quality of life. Only two physicians who discouraged use of mechanical ventilation were familiar with newly described methods of noninvasive ventilatory aid. The clinic directors were also asked to estimate the satisfaction with life of Duchenne muscular dystrophy (DMD) ventilator users. Eighty DMD ventilator users also responded to a separate and identical life satisfaction survey. The clinic directors significantly underestimated the users' reported life satisfaction. The directors who discouraged ventilator use more significantly underestimated the users' life satisfaction than those who recommended it. We conclude that the MDA clinic directors' estimation of ventilator users' quality of life and satisfaction with life is positively correlated with the likelihood of their discussing and recommending ventilator use to prolong life. Despite the wider recognition and availability of more convenient noninvasive methods of ventilatory assistance, the use of mechanical ventilation by MDA clinics has not changed significantly since 1985.
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PMID:Ventilator use by muscular dystrophy association patients. 154 15

The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of Duchenne (DMD) and Becker (BMD) muscular dystrophy. Apart from "classical" clinical presentations, asymptomatic or only mildly affected individuals with deletions in the dystrophin gene have now been reported. We describe two families which were initially classified as metabolic myopathies, until the diagnosis of atypical BMD was established after dystrophin analysis at the protein and DNA level. A modern diagnostic approach to myopathies should, therefore, not only include morphological and biochemical investigations, but also be extended to the analysis of the dystrophin gene.
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PMID:Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. 154 42

We studied a 5-year-old boy who had the "floppy infant syndrome" and a dystrophic pattern on muscle biopsy. According to the clinical presentation and the histopathological findings the diagnosis of congenital muscular dystrophy with associated intellectual retardation was made. Immunohistochemical and immunoblot studies using anti-dystrophin antibodies showed complete absence of the protein in the patient's muscle. DNA analysis using cDNA probes showed a deletion at the 5' end of the dystrophin gene. Our observations on this patient suggest a new phenotypical variant of Duchenne muscular dystrophy.
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PMID:Dystrophin deficiency in a case of congenital myopathy. 155 7

Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Two-thirds of DMD patients carry detectable deletions in their dystrophin gene. The defect underlying the remaining one-third of DMD patients is undetermined. Analysis of the canine dystrophin gene in normal and GRMD dogs has failed to demonstrate any detectable loss of exons. Here, we have demonstrated a RNA processing error in GRMD that results from a single base change in the 3' consensus splice site of intron 6. The seventh exon is then skipped, which predicts a termination of the dystrophin reading frame within its N-terminal domain in exon 8. This is the first example of dystrophin deficiency caused by a splice-site mutation.
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PMID:An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. 157 76

Two types of progressive muscular dystrophy occur in Tunisian children. The first type is characterized by normal dystrophin assays and affects girls and boys in an autosomal recessive pattern of inheritance. The second type has the features of the typical Duchenne muscular dystrophy (DMD) and has abnormal dystrophin. Between 1974 and 1986, 77 patients with Duchenne muscular dystrophy were examined, 66 were biopsied. Among affected siblings and within family kindreds, we observed both clinical and histopathological variability. However, there was a close correlation between the clinical condition and the biopsy findings in each case, allowing accurate prediction of the patient's course and probable duration of the disease.
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PMID:Duchenne muscular dystrophy in Tunisia: a clinical and morphological study of 77 cases. 157 35

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

Fasioscapulohumeral muscular dystrophy (FSHD) has recently been localized to 4q35. We have studied four families with FSHD. Linkage to the 4q35 probes D4S163, D4S139, and D4S171 was confirmed. We found no recombinants helpful in detailed localization of the FSHD gene. Two of our families include males with a rapidly progressive muscle disease that had been diagnosed, on the basis of clinical features, as Duchenne muscular dystrophy. One of these males is available for linkage study and shares the haplotype of his FSHD-affected aunt and cousin.
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PMID:Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35. 164 42

This article describes the diagnostic algorithm being used for the management of the 148 families affected by Duchenne or Becker muscular dystrophy who are known to the Molecular Neurogenetics Laboratory in the Department of Neuropathology, Royal Perth Hospital. In 60 families from whom DNA has been obtained, 41 mutations (39 deletions and two duplications) of the Duchenne muscular dystrophy gene (DMD) have been identified by means of complementary DNA (cDNA) probes. DNA-based screening has clarified the carrier status of 45 at-risk women, and 13 pregnancies have been monitored. In addition, cDNA screening of all relevant patients with autosomal recessive muscular dystrophy, spinal muscular atrophy or limb-girdle muscular dystrophy facilitated the correct diagnosis of Becker muscular dystrophy in three patients.
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PMID:The diagnosis of Duchenne and Becker muscular dystrophies: two years' experience in a comprehensive carrier screening and prenatal diagnostic laboratory. 167 Jun 11


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