DUCHENNE MUSCULAR DYSTROPHY DIAGNOSED BY DYSTROPHIN GENE DELETION TEST: A CASE REPORT
Journal Title: International Journal of Medical Research & Health Sciences (IJMRHS) - Year 2014, Vol 3, Issue 2
Abstract
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease affecting 1 in 3600—6000 live male births. A muscle biopsy is not necessary if a genetic diagnosis is secured first, particularly as some families might view the procedure as traumatic. DMD occurs as a result of mutations (mainly deletions) in the dystrophin gene (DMD; locus Xp21.2). Mutations lead to an absence of or defect in the protein dystrophin, which results in progressive muscle degeneration leading to loss of independent ambulation. Ninety percent of out frame mutations result in DMD, while 90% of in-frame mutations result in BMD. Electron microscopy is not required to confirm DMD. Genetic testing is mandatory irrespective of biopsy results. But the muscle biopsy is not required if the diagnosis is secured first by genetic testing.
Authors and Affiliations
Rathod Kishor G| Department of Pediatrics, Dr. Shankarrao Chavan Government Medical College, Nanded, Maharashtra, India, Corresponding author email: kishorgrathod@gmail.com, Dawre Rahul M| Department of Pediatrics, Dr. Shankarrao Chavan Government Medical College, Nanded, Maharashtra, India, Kamble Milind B| Department of Pediatrics, Dr. Shankarrao Chavan Government Medical College, Nanded, Maharashtra, India, Tambe Saleem H| Department of Pediatrics, Dr. Shankarrao Chavan Government Medical College, Nanded, Maharashtra, India
Keywords
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- DOI 10.5958/j.2319-5886.3.2.109
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