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  • What's wrong?  You've been falling frequently, having trouble getting up, and been waddling 
  • Testing
  • My son has been having frequent falls, waddling, and he also has a learning disability. I know this is not normal. 
  • I also notice that he has enlarged calves and he has a medical problem in the muscles. I will order a CPK(creatine Phosphokinase) blood test  
  • Diagnosis/Prognosis
  • Yes, let's do it. 
  • So his CK levels came back high. Now, we could run a DNA-based genetic test, if that is what you would like, that finds mutations or changes in the genes
  • Children who have  Duchenne Muscular Dystrophy are often late walkers and have enlarged calves. They will also be clumsy and have trouble walking, running, climbing, etc. Some begin walking on their toes or the balls of their feet. Most often having a learning disability or slow growth. 
  • ...
  • CPK blood test are the first step in the diagnosis process. A positive test means that the CK levels are high, which can mean a problem with the muscles (rather than a problem with the nerves, for example). CK testing cannot be used to make a diagnosis, and is not genetic testing. However, a doctor should offer  testing that can give a diagnosis. 
  • Treatment
  • Is there any way he can get better?
  • Genetic testing involves analyzing the DNA of any cells (usually blood) to see whether there is a mutation in the dystrophin gene, and if so exactly where it occurs. Female relatives of men/boys with DMD can undergo DNA testing to see if they are carries. Women who are DMD carries can pass on the disease to their sons and their carries to their daughters. 
  • Experimental Cure?
  • What treatments or cures can help those with Dechenne MD?
  • This can lead to a loss of mobility. Muscles in the heart and respiratory system may also be affected which makes them more susceptible to complications like infections and heart failure. The DMD gene provides instruction for making the protein dystrophin. This protein in located primarily on skeletal/ cardiac muscles, where it helps stabilize/protect muscle fibers
  • It turns out your son has Duchenne Muscular Dystrophy, a genetic problem that leads to muscles weakness affecting voluntary muscles in the legs and arms which is the reason why your son has the frequent falls, trouble walking, etc.  
  • Treatment varies from person to person. Many get braces, standing frames and wheelchairs. Others need cardiac and respiratory care. Also those with learning disabilities can see a pediatric neuropsychologist. Many go to therapy or exercise in order to control things such as spinal curvatures, contractures and simply maintain mobility.
  • Well there is no cure, but physical therapy and medications such as corticosteroids, can help control symptoms and improve quality life.
  • One of the most popular possible treatments right now is Exon Skipping.  which entails antisense oligonucleotides (AOs), compounds that can restore limited amounts of dystrophin by bypassing the gene mutation associated with a lack or dystrophin. There is also Utrophin,a protein similar in nature to dystrophin that is thought to be able to fulfill its role- protecting cells from damage during contractions and maintain their integrity 
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