Genetic and Clinical Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Eastern India.
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Date
2015-06
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Abstract
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.
Description
Keywords
Diagnosis, Muscular dystrophy, Polymerase chain reaction
Citation
Dey Sadanand, Senapati Asit Kumar, Pandit Alak, Biswas Atanu, Guin Deb Sankar, Joardar Anindita, Roy Sarnava, Gangopadhyay Goutam. Genetic and Clinical Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Eastern India. Indian Pediatrics. 2015 June; 52(6): 481-484.