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)

With the aim of offering carrier detection, genetic counselling, and prenatal diagnosis to as many families with Duchenne (DMD) and Becker (BMD) muscular dystrophy as possible, we used available DNA probes to determine the usefulness of the RFLP approach. We report in detail the risks calculated using Bayesian theory and combining pedigree and creatine kinase (CK) data with information derived from the RFLP studies. To date we have analysed members of 28 DMD families (10 familial, 18 sporadic) and six BMD families (four familial, two sporadic) with the closely linked pERT probes 87-1, 87-8, and 87-15 (DXS164). In addition, key members of all families were analysed with probes D2 (DXS43), C7 (DXS28), 754 (DXS84), and L1 X 28 (DXS7). Of the 97 females at risk of being carriers (not including 26 obligate carriers), the RFLP results were compatible with carriership in 22 and not in 51. In 24 females (including 17 mothers of sporadic cases), no information regarding carriership was derived from the RFLP studies. There was no disagreement between pedigree information, clearly raised CK values, and DNA studies. Of 52 obligate or possible carriers under the age of 45, prenatal diagnosis is possible in 49. Prenatal diagnostic RFLP studies have so far been done in three women. In one sporadic DMD family and one BMD family with three affected males the probands showed a deletion involving the three pERT87 subclones used. Experience derived from these families indicates that in our society genetic counselling in X linked muscular dystrophy is received with approval or even enthusiasm in spite of the 5% error estimate that we have quoted for pERT87 derived results.
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PMID:Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. 287 28

The presence of variable degrees of non progressive cognitive impairment is recognized as a clinical feature of patients with Duchenne and Becker muscular dystrophies (DMD and BMD), but its pathogenesis still remains a matter of debate. A number of findings have proved that rearrangements located in the second part of the dystrophin ( DMD ) gene seem to be preferentially associated with cognitive impairment. Dp140 is a distal dystrophin isoform, mainly expressed during fetal brain development, whose role for neuropsychological functioning was suggested. The aims of the current study were to explore the possible association between cognitive impairment and DNA mutations affecting the regulatory regions of Dp140, as well as to compare the neuropsychological functioning of patients affected with DMD and Intermediate muscular dystrophy (IMD) with those affected by Becker muscular dystrophy (BMD). Fiftythree patients genetically diagnosed with DMD, IMD and BMD, subdivided according to sites of mutations along the DMD gene, underwent a neuropsychological assessment, evaluating their general cognitive abilities, verbal memory, attention and executive functions. Twenty patients with mutations, terminating in exon 44 or starting at exon 45 were tested by polymerase chain reaction (PCR) amplification of microsatellites STR44, SK12, SK21 and P20 DXS269, in order to evaluate the integrity of the Dp140 promoter region. According to our statistical results, there was not a significant difference in terms of general intelligence between the allelic forms of the disease, a higher frequency of mental retardation was observed in DMD patients. The patients with BMD had better results on tests, measuring long-term verbal learning memory and executive functions. We found that patients lacking Dp140 performed more poorly on all neuropsychological tests compared to those with preserved Dp140. Overall, our findings suggest that the loss of Dp140 is associated with a higher risk of intellectual impairment among patients with dystrophinopathies and highlights the possible role of this distal isoform in normal cognitive development.
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PMID:Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies. 2426 81