Duchenne/Becker Muscular Dystrophy:
Muscular dystrophies are a group of genetic conditions characterised by progressive muscle weakness and wasting (Duchenne/Becker Muscular Dystrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.
Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. The two conditions differ in their severity, age of onset, and rate of progression. In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsen rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking. They are usually wheelchair-dependent by adolescence.
Duchenne/Becker Muscular Dystrophy mutation screening (DMD – 26 exons):
Deletions were detected in (57.3%) patients, and around 83% localised in the mid-distal hotspot of the gene (on exons 44–52), 33.3 % with single-exon deletions, and 66.6% cases multi-exonic deletions. The most common deleted exons were exon 50 (15 %) and exon 49 (14)%. No elimination was detected in exon 3. For molecular genetic studies, MPCR assays were done using three complementary MPCR assays that detected 26 exons of the dystrophin gene. Three separate PCR assays were performed on each patient’s DNA sample to amplify 26 dystrophin gene exon.