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Duchenne Muscular Dystrophy Case Study

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RARE PEDIATRIC DISEASE DESIGNATION FOR THE POTENTIAL TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY

Duchenne muscular dystrophy (DMD) is a serious and rare genetic disorder characterized by progressive muscle degeneration and weakness, primarily affecting boys. According to the Centers for Disease Control and Prevention, 15 out of every 100,000 males, aged between 5 and 24 years are affected. Symptoms usually start appearing in early childhood between 3 and 5 years of age. Gradually, the disease progresses with the weakening of skeletal or voluntary muscles in the arms, legs, and trunk. Due to this progressive muscle weakness, often the patients become bound to the wheelchair at an early age. Usually scoliosis surgery and/ or physical therapeutic measures such as physiotherapy or glucocorticoids are recommended for slowing disease progression and to offer symptomatic relief. However, due to the unavailability of disease-modifying treatment, …show more content…

has developed an investigational drug called drisapersen for the treatment of DMD. This drug aims to treat 13% of the patients who are responsive to exon 51 skipping treatment. This represents the largest subpopulation of DMD patients, including patients with deletions of exon 50, exon 52, exons 45-50, exons 48-50, and exons 49-50. DMD is caused by the mutations in the dystrophin protein gene. Mutations are, mostly, deletions of one or more exons that interrupt the open reading frame of the transcript and eventually stop the synthesis of the dystrophin protein. Drisapersen, an RNA-modulating therapy, skips the exon 51 in dystrophin pre-mRNA. By skipping one or more exon(s), there is re-establishment of the open reading frame, followed by production of novel shortened dystrophin. By the production of dystrophin, the severity of Duchenne is reduced and it is converted into a milder Becker Muscular Dystrophy

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The disease Duchenne muscular Dystrophy (DMD) is the most common form of muscular dystrophy (1) in fact 3 out of every 10,000 births will result in a male born with this disorder (2). DMD is a recessive sex linked disorder that can only be passed down to the child if his mother is the carrier (2, 3). Symptoms for DMD are confinement to a wheel chair by the age of 11at the latest and are expected to die in their twenties to forties (2, 4). This is because DMD causes progressive muscle weakness and will reduce muscle tone throughout the body. Muscle weakness will usually begin its onset by the age of three (4).

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The whole appointment lasted almost two hours, but it was a very educational two hours, because in the end I found out that I not only had Scoliosis, but that I also had Ehlers Danlos Syndrome (EDS). There are three main types of Ehlers Danlos Syndrome, and I have the hypermobility type. It’s essentially a problem in your body that doesn’t allow you to produce collagen correctly. Unfortunately that affects the way

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