Duchenne muscular dystrophy: genome editing gives new hope for treatment

Abstract

Duchenne muscular dystrophy (DMD) is a progressive wasting disease of skeletal and cardiac muscles, representing one of the most common recessive fatal inherited genetic diseases with 1:3500-1:5000 in yearly incidence. It is caused by mutations in the DMD gene that encodes the membrane-associated dystrophin protein. Over the years, many have been the approaches to management of DMD, but despite all efforts, no effective treatment has yet been discovered. Hope for the development of potential therapeutics has followed the recent advances in genome editing and gene therapy. This review gives an overview to DMD and summarises current lines of evidence with regard to treatment and disease management alongside the appropriate considerations.

Dilemma in the Management of Duchenne Muscular Dystrophy in a Resource Limited Settings

“…Duchene muscular dystrophy (DMD) is an X-linked recessive disorder aff ecting 1 in every 3500-5000 males globally 2 . It results from mutations in the DMD gene which encodes the membrane-associated dystrophin protein 3 . It is a musculoskeletal disorder which manifests with a progressive muscular weakness and pathologic features of fi brosis and fatty replacement 4 .…”

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“…diagnóstico da Distrofia Muscular de Duchenne baseia-se no quadro clínico do paciente, na história familiar e nos seguintes exames complementares: dosagem dos níveis sanguíneos da enzima creatinofosfoquinase (CK), que se encontram sempre muito elevados, exame de DNA para pesquisa de deleção no gene da distrofina, biópsia muscular para o estudo qualitativo da proteína distrofina no músculo do paciente, especialmente nos casos em que o exame de DNA não identifica a deleção do gene da distrofina(ARAUJO et al, 2017a(ARAUJO et al, , 2018COENEN-STASS;WOOD;ROBERTS, 2017;CRISPI;MATSAKAS, 2018; CAMPS et al, 2019).…”