The reading frame rule holds true 90% of the time. There remains those 10% that does not fit dmd/bmd phenotype. There is a 3rd form that may be considered as an intermediate between Duchenne and Becker MD(mild DMD or severe BMD.
Latest Activity: Jun 24, 2020
Started by Simone & Elias. Last reply by KarstensMom Dec 31, 2017. 16 Replies 0 Favorites
Started by Regina. Last reply by Regina May 5, 2011. 4 Replies 0 Favorites
Started by Eliane Khoury. Last reply by Keith Van Houten Mar 25, 2009. 1 Reply 0 Favorites
I have two sons aged 5 and 7. They were diagnosed DMD when elder one was 4. They both have duplication according to DNA sequence analysis. We are seeing a doctor for 3 years and using steroids for our elder son(5 mg per day). But this year our doctor told us that our son might be Becker type. My son has no problems in terms of mobility. Bu he can't run fast and we have small problems like jumping and climbing stairs. I am still confused about our problem, if it's DMD or BMD. They need to investigate further with muscle sample. We will give it a try later. I am also confused about using steroids. Do we really need to use them?
Curious to what IMD is. My son is considered an outlier deletion 3 to 7 out of frame he wasn't diagnosed until he was 9, we started steroids a year later, and saw improvement, he is still walking, running and doing stairs at 14 1/2. His timed physical tests are normal, he can't sustain physical activity without getting tired for more then 30 minutes but still is pretty strong. I believe the steroids are helping.
Your son have deletion 3-30 in frame,like my son?
The term outlier was used for my son between 1 to 2 years ago when he saw Dr. Flanagin the second time. He was over 16 and still able to support himself (standing) for transfers. When your child is young and newly diagnosed you would give anything for the doc to tell you he has beckers or is an outlier. When he said it at 16 it was more like "yea that's nice" I think calling it dmd or bmd confuses things. In my mind it is all one disease from a mild becker to a severe duchenne, simply different degrees of the same disorder. I have learned that we will all deal with what ever happens when it happens the best way we know how. What you call it really doesn't change that. IMHO
Thanks Ann & Regina for clarifying... that makes perfect sense! Ann - get on active.com and register - Shirlene will be sooo pleased!!! can't wait to see you!
need a brief expalnaiton on an "outlier" - would my Dr have told us that already. Our 5 yr old is a Stop codon, at exon 23... he is doing soooo well, no steroids yet. During his recent timed tests he improved. I realize this occurs just because of age and normal growth... but the "outlier" aspect has me curious???? can anyone explain??
You need to be a member of Outliers - Intermediate between Duchenne & Becker MD to add comments!