1/90. Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy.Duchenne muscular dystrophy (DMD) is a relentless progressive disorder, leading to severe disability during childhood and death in adolescence or early adulthood. In most families, prenatal diagnosis is readily achieved by molecular detection of dna deletions using chorionic villi or amniocytes, or by linkage analysis. In some cases, however, molecular methods fail to provide a definitive diagnosis and in such cases in utero fetal muscle biopsy may serve as a diagnostic option. We describe three families in whom fetal muscle biopsy was performed, focusing on the prenatal diagnostic dilemmas, the indications and timing for in utero fetal muscle biopsy, and the difficulties encountered.- - - - - - - - - - ranking = 1keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
2/90. Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years.To elucidate the clinical characteristics of aged patients with Becker muscular dystrophy (BMD), 4 patients with this disease who were over 50 years were examined. The ages at onset in all patients were later than 30 years. All were proven to have a deletion around exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. Two patients became wheelchair bound in their 40s or beyond, while the other 2 (aged 73 and 69, respectively) were still able to walk at the time of examination. Three of 4 patients had no obvious hypertrophy in their calves, which is known to be one of the characteristic clinical features in the juvenile BMD patients. serum creatine kinase levels were elevated in all patients, but not markedly (mean 444.8 /- 230.3 U/l; normal value < 180 U/l). Dilated cardiomyopathy was clinically apparent in 2 patients. We emphasize that some BMD patients are free of muscular symptoms until their 50s and are still self-supporting in their 60s or 70s.- - - - - - - - - - ranking = 1.2keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
3/90. Duchenne muscular dystrophy and concomitant metastatic alveolar rhabdomyosarcoma.The authors report the concomitant occurrence of Duchenne muscular dystrophy (DMD) and alveolar rhabdomyosarcoma (RMS). A 4-year-old boy presented with symptoms involving his neuromuscular system that affected primarily his left hip and leg. Duchenne muscular dystrophy was diagnosed. Seven months later, metastatic alveolar RMS in the ipsilateral pelvis was documented. The diagnosis of one major disorder affecting striated muscle (DMD) may have prevented the early detection of another (RMS).- - - - - - - - - - ranking = 1.2keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
4/90. Cardiac involvement in Becker's muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement.In Becker's muscular dystrophy cardiac abnormalities usually occur after onset of neuromuscular symptoms. We describe a Becker muscular dystrophy patient in whom chronic heart failure, necessitating cardiac transplantation, was the initial manifestation. Neuromuscular symptoms occurred not earlier than 6 years after the initial cardiac symptoms and 5 years after heart transplantation. In conclusion, severe heart failure due to dilated cardiomyopathy may be the initial manifestation of Becker's muscular dystrophy and may predate neuromuscular symptoms for years.- - - - - - - - - - ranking = 1.4keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
5/90. A female carrier of Duchenne muscular dystrophy complicated with cardiomyopathy.A 45-year-old female carrier of Duchenne muscular dystrophy (DMD) complicated with cardiomyopathy is described. She had no symptoms of muscle weakness or heart failure. Her chest x-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left ventricle. In myocardial scintigraphic images, perfusion defects of the myocardium were revealed. dystrophin immunostaining of myocardial biopsy specimens showed a mosaic pattern of dystrophin-negative and -positive fibers. Cardiomyopathy is sometimes the only clinical symptom in female carriers of DMD. They are thought to be in a high risk group for developing heart failure.- - - - - - - - - - ranking = 1keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
6/90. Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation.Severe mental retardation is a rare complication of Duchenne muscular dystrophy (DMD). Here we report that two DMD cases showing severe mental retardation exhibit the same exon skipping event induced by different intron mutations. In the two Japanese DMD patients studied, the complete sequence of exon 66 of the dystrophin gene was found to be absent from the dystrophin mRNA, creating a premature stop codon in exon 67. Novel point mutations at the consensus sequence of the splice donor site of intron 66 (T9857( 2) to C in one case and G9857( 5) to T in the other case) were found to be the cause of complete exon skipping. Remarkably, severe mental retardation cosegregated with an exon 66-skipping event in their families. Furthermore, pachygyria was disclosed by magnetic resonance imaging (MRI) examination of the brain of one case. Our results suggested that exon 66 skipping should be examined in DMD cases with a severe form of mental retardation.- - - - - - - - - - ranking = 1keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
7/90. Detection of deletion in the dystrophin gene of a patient with quadriceps myopathy.A 43 year old male presented with slowly progressive weakness of limbs and hypertrophy of triceps, brachioradialis and calf muscles for four years. There was thinning of quadriceps muscles in both thighs. Histological study was compatible with Becker muscular dystrophy (BMD). Genomic dna analysis showed a deletion of the Hind III fragments, spanning exons 45-47. A junction fragment of 11.0 kb was observed along with a deletion of a 3.4 kb PstI fragment containing exon 51 in the patient, and in one of his two sisters. The clinical and laboratory characteristics in this patient are in keeping with what has been described 'quadriceps myopathy' and fall within the phenotypic variants of BMD as has been shown by others.- - - - - - - - - - ranking = 0.2keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
8/90. Perturbation in dystrophin-associated glycoprotein complex in a boy with Becker muscular dystrophy.We report on a boy with a BMD phenotype presenting with a deletion of exons 45-49 in the DMD gene. Immunofluorescence and Western blot analysis of a skeletal muscle sample revealed, as expected, truncated dystrophin with loss in the central rod domain, but with an unusual severe deficiency in the sarcoglycan complex, as in severe DMD. We discuss possible neighboring between dystrophin and associated proteins within their complex organization at the muscle membrane.- - - - - - - - - - ranking = 0.8keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
9/90. Oral creatine supplementation in Duchenne muscular dystrophy: a clinical and 31P magnetic resonance spectroscopy study.The decrease in intracellular creatine concentration in Duchenne muscular dystrophy may contribute to the deterioration of intracellular energy homeostasis and may thus be one of the factors aggravating muscle weakness and degeneration. Oral creatine supplementation should have potential in alleviating the clinical symptoms. To test this hypothesis, creatine was orally administered over a period of 155 days to a 9-year-old patient with Duchenne muscular dystrophy. In accordance with previous investigations on normal subjects and trained athletes, the patient experienced improved muscle performance during creatine supplementation. Further evidence supporting this hypothesis derived from plasma creatine kinase and lactate dehydrogenase activities and repeated 31P magnetic resonance spectroscopy of the gastrocnemius muscle. These preliminary observations indicate a potential role for creatine supplementation in the symptomatic therapy of patients with muscle disease.- - - - - - - - - - ranking = 1.2keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
10/90. Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.A man was identified with two X-chromosomal neuromuscular disorders, X-linked charcot-marie-tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing to a de novo deletion in the dystrophin gene located in band Xp21.2. Although these genetic alterations of the same X-chromosome are considered as physically independent, their combination resulted in a unique phenotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions.- - - - - - - - - - ranking = 1.2keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
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