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Deletions

Members: 237
Latest Activity: Feb 3, 2017

Discussions

Deletion of exon 44

Started by Rahul Deshpande. Last reply by Tuyet Lan Thi Tran Jul 26, 2014. 2 Replies

Exons 51-53?

Started by Kira Mullaly. Last reply by vishal wadhwani Jul 25, 2014. 9 Replies

Deletion of Exon 45 (Out of Frame)

Started by Tammy. Last reply by Ramya Srinivassan May 2, 2014. 15 Replies

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Comment by Jessica on August 13, 2008 at 3:48pm
My son Evan has an in frame deletion of exon 13. He is 18 months and his only symptom is that he hyper extends his knees. However doctors do describe him as being asymptomatic at this point.
Comment by Sabrina on August 13, 2008 at 7:54am
My son Martin just turned 10 and has deletion of exons 49 - 52. He's still able to walk and stand up from the floor, but he has great difficulties when he climbs stairs.
Comment by Polly Sundeen on August 11, 2008 at 10:03pm
My son just turned 9 and has a deletion of exons 46-47. He's still ambulatory....but we use a manual chair for trips to the mall and amusement parks. Working on getting him a scooter so he has more independence when we are camping.
Comment by Karen Jones on August 8, 2008 at 7:53pm
My son is 12 1/2 and has deletion of exons 38 - 43. He is still walking but he seems to be slowing down some. Are these deletions rare or are they among the norm. I have not seen any posts for this deletion.??
Comment by Claire Albertson on August 6, 2008 at 1:48pm
My son is 20 and has a 17 through 20 deletion.
Comment by Kelly Bruhl on August 1, 2008 at 12:05am
My son Cade has a 3-7 deletion. He is 8 now and was just diagnosed 3 months ago.
Comment by Ruth Rhodes on July 30, 2008 at 11:31pm
My middle son Levi age 3 has a deletion of exons 22 through 29. We will find out the results of his muscle biopsy on Friday and get a new pair of braces for him.
Comment by Lyndsey Manderfield on July 14, 2008 at 9:07pm
My son, Logan is 4 and has a deletion of exon 19. He was diagnosed at 16 months & is showing minimal signs of the DMD at this point, but since most boys aren't diagnosed until later, I guess that's normal. Just curious if anyone else has a son with the same mutation...
Comment by Regina on July 9, 2008 at 11:22pm
I was just told that my son has deletion at 8-11 but I am having trouble finding anyone else with a similar mutation. Also, his initial dr. said a muscle biopsy was not necessary, but does that sound unusual. I would think they would do it to evaluate the quality/amount of his dystrophin. Any thoughts, advice? I am still getting over the shock of this, so any imput would be so appreciated.
Comment by Tonya on July 7, 2008 at 6:16pm
My son Gavin also has the same deletion as Mitch 48-50. He is 2 years old, but I too would be interested in hearing from other as to the progression and from you how things have been going in your life. My cousin also had DMD with the same deletion. It may be hard to compare he passed away in 1989 at 27 years of age. He was never on steroids or any supplements or anything. He did really well for the time he was diagnosed without any form of treatment.
 

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