Application of Multiplex PCR for Detection of Duchunne Muscular Dystrophy: A Childhood Neuromuscular Disorder

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that affects 1 in 3,600 -6,000 males and is caused by mutation in the dystrophin gene. This is neuromuscular disorder with progressive muscle weakness, which predominantly affect males. Till date no absolute cure of the disease is available in clinical practice. Early diagnosis and timely management are requisite for DMD and it enhances the quality of life of patients. Various diagnostic approaches are available but due to accuracy, early detection and non-invasive method molecular tools are most remarkable in recent era. Multiplex PCR has emerged as one of the most convenient tools for screening of DMD in terms of its sensitivity, specificity, accuracy, cost effectiveness and time consumption. The current study emphasizes advantages and shortcomings of multiplex PCR with reference to most of the past studies along with its challenges for DMD detection in detail. Mutation detection is evidently crucial for diagnosis, as well as it may also be significant for future therapeutic purposes. Further research is important to elucidate specific mutation pattern in association with management and therapies of proband.

Duchenne muscular dystrophy: problems of differential diagnosis and treatment

“…У 40% пацієнтів знахо дять дрібні точкові мутації. Відсутність синтезу дистрофіна, характерна для ММД, призводить до прогресуючої дистрофії м'язів (у тому числі серцевого м'яза) та до смерті у віці до 30 років від легеневої або серцевої недостатності [23]. Близько 30% випадків МДД обумовлені мута ціями de novo.…”