title: Genetic and Clinical Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Eastern India.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, and *Neurogenetics Unit of Department of Neurology, Bangur Institute of Neurosciences, Kolkata, India Correspondence to: Dr Atanu Biswas, Associate Professor, Department of Neurology, Bangur Institute of Neurosciences, 52/1A, SN Pandit Street, Kolkata 700 025, India. atabis@gmail.com.
authors.forename: Sadanand
authors.initials: S
authors.lastname: Dey
authors.forename: Asit Kumar
authors.initials: AK
authors.lastname: Senapati
authors.forename: Alak
authors.initials: A
authors.lastname: Pandit
authors.forename: Atanu
authors.initials: A
authors.lastname: Biswas
authors.forename: Deb Sankar
authors.initials: DS
authors.lastname: Guin
authors.forename: Anindita
authors.initials: A
authors.lastname: Joardar
authors.forename: Sarnava
authors.initials: S
authors.lastname: Roy
authors.forename: Goutam
authors.initials: G
authors.lastname: Gangopadhyay
mesh_terms: D002675:Child, Preschool; D015331:Cohort Studies; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D062606:Tertiary Care Centers