| ORIGINAL ARTICLE |
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| Year : 2009 | Volume
: 57
| Issue : 6 | Page : 734--738 |
Duchenne muscular dystrophy: A clinical, histopathological and genetic study at a neurology tertiary care center in southern India
Bhairavi Swaminathan1, GN Shubha1, D Shubha1, A Ram Murthy1, HB Kiran Kumar1, S Shylashree2, N Gayathri3, R Jamuna4, Sanjeev Jain1, Meera Purushottam1, A Nalini2
1 Department of Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences, Bangalore, India
2 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India
3 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India
4 Department of Neuropsychology, National Institute of Mental Health and Neurosciences, Bangalore, India
Correspondence Address:
A Nalini
National Institute of Mental Health and Neurosciences, Neuroscience Faculty Block, Bangalore - 560 029
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.59468
Background : Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy that affects young boys and the dystrophin gene on the X chromosome has been found to be associated with the disorder. Materials and Methods : In this prospective study, 112 clinically diagnosed DMD patients had muscle biopsy and were tested for exon deletions. Genotyping was also carried out at STR44, STR45, STR49 and STR 50 markers in 15 families. Results : Of the 112 clinically suspected DMD patients, the diagnosis of DMD was confirmed by histopathology and/or genetics in 101 patients. The mean age of onset was 3.1±1.44 years (1-6 years) and the mean age at presentation was 8.0±3.1 years (1.1-18.0 years). Delayed motor milestones were present in 63 (62.3%) patients. The mean creatine kinase value was 11822.64±8206.90 U/L (1240-57,700). Eighty-four patients had muscle biopsy and immunohistochemistry was done in 60 muscle samples, all of which demonstrated absence of dystrophin staining. Of the 60 dystrophin-negative cases, 73% showed deletion of at least one exon. Single exon deletion was found in 20.4%. Distal hotspot Exons 45, 47, 49 and 50 were the commonly deleted xenons and the deletion rates were 36%, 35%, 33.7% and 38.5% respectively. Conclusions : In this study population in south India the deletion rate was 73% and were more frequent in the distal end exon. With the availability of genetic analysis, the first investigation of choice in DMD should be genetic studies and muscle biopsy should be considered only if the genetic tests are negative or not available.
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