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)

A 53-year-old female with muscular symptoms and incomplete Turner's syndrome was presented. She had two sons with Duchenne type muscular dystrophy (DMD). Her muscular symptoms became apparent at age 52 years, and her elevated serum CK, EMG and pathological findings of the biopsied muscle were consistent with muscular dystrophy. Her cytogenetic analysis from the cultured lymphocytes and fibroblasts showed a 45XO/46XX/47XXX chromosome constitution. Analysis of number of Barr bodies in the muscle specimen revealed that the total number of the bodies were significantly decreased in this case than in the control muscles. The result indicated that nuclei of 45XO karyotype were evidently present in her muscle and contributed to the process of muscle fiber breakdown as a major pathogenetic factor. However, inactivation of normal X chromosome also concerned the pathologic process because there were nuclei with Barr bodies in the damaged fibers as well. Only seven cases with X chromosome mosaicism and muscular symptoms attributable to DMD gene were seen in the literature. Four of them showed rather typical clinical features of DMD, but the muscular symptoms were much milder in the remainder, and patients were still able to walk in their middle lives. It was presumed that the severity of the clinical symptoms was parallel to the ratio of 45XO karyotype in the total number of muscular nuclei.
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PMID:[Duchenne muscular dystrophy carrier presenting with mosaic X chromosome constitution and muscular symptoms--with analysis of the barr bodies in the muscle]. 222 60

The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is an X-linked disorder that ordinarily has full clinical expression only in males. Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive muscular dystrophy as well as in females with X-chromosome abnormalities such as the Turner syndrome. A girl with full expression of DMD due to a 46 XY karyotype is reported, and other clinical conditions in which expression of the DMD gene occurs in females are reviewed.
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PMID:Duchenne muscular dystrophy in a 46 XY female. 369 49

A balanced de novo (X;9) translocation was observed in a patient with progressive muscular dystrophy of Duchenne's type (DMD), Turner's syndrome, epilepsy and mental retardation. The involvement of the paternal X is suggested. The assignment of the gene locus for DMD is confirmed on Xp21.
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PMID:Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation. 633 82

Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy caused by mutations in the dystrophin gene and it affects males predominantly. Here we report a 4-year-old girl with DMD from a healthy family, in which her parents and sister have no DMD genotype. A PCR-based method of multiple ligation-dependent probe amplification (MLPA) analysis showed the deletion of exons 46 and 47 in the dystrophin gene, which led to loss of dystrophin function. No obvious phenotype of Turner syndrome was observed in this patient and cytogenetic analysis revealed that her karyotype is 46,X,i(X)(q10). In conclusion, we describe the first female patient with DMD who carries a de novo mutation of the dystrophin gene in one chromosome and isochromosome Xq, i(Xq), in another chromosome.
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PMID:Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10). 2094 43

Pierre-Robin sequence or syndrome (PRS) (OMIM #261800) is characterized by a small mandible (micrognathia), posterior displacement/retraction of the tongue (glossoptosis), and upper airway obstruction. It has an incidence varying from 1 in 8,500 to 1 in 30,000 births. Congenital heart defects (CHDs) occur in 20 % of the patients with PRS. Ventricular septal defect, patent ductus arteriosus, and atrial septal defects are the most common lesions. Noncompaction of the ventricular myocardium is a rare cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. It is thought to be caused by arrest of the normal endomyocardial morphogenesis. Isolated left ventricular noncompaction (LVNC) in patients with PRS has not been reported previously. This report describes a newborn with PRS and isolated LVNC. Previously, LVNC has been reported in association with mitochondrial disorders, Barth syndrome hypertrophic cardiomyopathy, zaspopathy, muscular dystrophy type 1, 1p36 deletion, Turner syndrome, Ohtahara syndrome, distal 5q deletion, mosaic trisomy 22, trisomy 13, DiGeorge syndrome, and 1q43 deletion with decreasing frequency. Karyotype analysis of the reported patient showed normal chromosomes (46, XX), and a fluorescent in situ hybridization study did not show chromosome 22q11.2 deletion. This is the first clinical report of a patient with isolated LVNC and PRS. Noncompaction of the ventricular myocardium is a rare and unique disorder with characteristic morphologic features that can be identified by echocardiography. Long-term follow-up evaluation for development of progressive LV dysfunction and cardiac arrhythmias is indicated for these patients.
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PMID:Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. 2244 82