Question

1) What is the primary cause of death for patients with Duchenne muscular dystrophy?

2) Describe two promising treatments (be specific as to the mechanism of action, not hand waving) for curing patients with Duchenne muscular dystrophy (2 pts).   

Answer 1

Duchenne muscular dystrophy Duchenne muscular dystrophy (PMD) is the most common inherited muscle disease in children. Omd is caused by a defect in the DMD gene located on the x chromosome. This gene is responsible for producing a protein called dystrophin, which normally functions to protect muscle fibens. Without dystrophen , muscles are broken down by enzymes, which cause degeneration and ultimately weakness ď muscles. DMD is primarily seen in boys and occurs about i o 3500 to 5000 newborn males, it affects gerls at a much lower rate. Symptoms usually appear in children between age two and three years. → The main cause d death in DMD is due to cardio- яеspixаlо яч Чашяе . → Heart disease is a major came of mortality rate in OMD on it can be defined as the second leading cause. DMD heart disease usually results in a dilated cardio- myopathy. + Respiratory failure -other than cardiac failure, respiratory failure is another caure of death in DMO palents Cardio - respiratory failure, followed by pneumonia, multi-organ failure, malnutrition, fat embolism and adrenal insufficiency

* Glucocorticoides Glucocorticoids are the primary treatment for DMD It is generally offered to boys who are over the age of syss Glucocorticoids have been proven to significantly increase strength , muscle Junction and lung Junction In addition, glucocorticoids decrease the progression of scoliosis. → Actually No known cure you DMD exists at present, but all there are treatments helps to control. * ne. {teplirsen Treatments other than glucocorticoids have nol-extensively studied, too but an exon skipping drug called eteplinsen can be used to treat a minority of patients wuth DMD. The drug works by tangeling a part of the genetic code called 'exon 51' in the amo This lead to increased production of dystrophin ton which is the protein that is deficient in DMD Ataluren Is an oral drug that can be used to treat a min of patients with DMD who have nonsensen Ataluren works by passing the nonsense mutahon, which allows production of a functioning dystrophin protein * utaho