Genetic and clinical profile of patients of Duchenne muscular dystrophy: Experience from a tertiary care center in Eastern India

• Published in: Indian pediatrics 2015-06, Vol.52 (6), p.481-484
• Main Authors: Dey, Sadanand, Senapati, Asit Kumar, Pandit, Alak, Biswas, Atanu, Guin, Deb Sankar, Joardar, Anindita, Roy, Sarnava, Gangopadhyay, Goutam
• Format: Article
• Language: English
• Subjects: Child, Preschool; Cohort Studies; Humans; India - epidemiology; Male; Maternal and Child Health; Medicine; Medicine & Public Health; Muscular Dystrophy, Duchenne - diagnosis; Muscular Dystrophy, Duchenne - epidemiology; Muscular Dystrophy, Duchenne - genetics; Pediatric Surgery; Pediatrics; Polymerase Chain Reaction; Research Paper; Tertiary Care Centers
• ISSN: 0019-6061; 0974-7559
• DOI: 10.1007/s13312-015-0660-8

Objectives To study the genetic pattern, clinical profile and to find any correlation between them in patients of Duchenne muscular dystrophy. Methods Patients were selected from Neurogenetic clinic on the basis of clinical features, elevated serum CPK level and electromyographic features. After history and clinical examination, molecular genetic testing was performed by Polymerase Chain Reaction (PCR) technique. Results Among 100 patients, 73 patients had genetically confirmed disease while 8 cases were proven by biopsy, and thus a total 81 cases were further taken up for the study. Mean age of onset of clinical symptoms was 3.9 yrs; Valley sign and calf hypertrophy were most consistent features, while about 51% had facial weakness. Out of 73 genetically confirmed cases 53 (72.6%) showed deletion in distal exons and 12 (16.4%) showed deletion in both proximal and distal exons while 8 (10.9%) had only proximal deletion. There was no correlation between genetic pattern and clinical features. Conclusion The positivity of PCR- based diagnosis is higher in our study possibly related to highly selective group of patients. Phenotype and genotype correlation was not seen.