Duchenne Muscular Dystrophy: Genetic and Clinical Profile in the Population of Rajasthan, India.

ABSTRACT:

Background

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive muscular dystrophy that affects young boys and is caused by mutation of the dystrophin gene located over X chromosome.

Materials and methods

In this prospective study, 120 clinically diagnosed DMD patients were tested for exon deletions, duplication or point mutation.

Results

Of the 120 clinically suspected DMD patients, the diagnosis of DMD was confirmed by the genetic study or muscle biopsy in 116 patients. The mean age of onset was 3.2 years and the mean age at presentation was 7.2 years. 110/120 cases were confirmed by genetic testing and six were by absence of staining for dystrophin on muscle biopsy. DMD gene deletion was present in 78.5%, duplication in 5.3% and point mutation in 11.2% cases.

SUBMITTER: Goyal M 

PROVIDER: S-EPMC8965960 | biostudies-literature | 2021 Nov-Dec

REPOSITORIES: biostudies-literature