Outliers - Intermediate between Duchenne & Becker MD

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Outliers - Intermediate between Duchenne & Becker MD

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.

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Outliers?

Started by Simone & Elias. Last reply by KarstensMom Dec 31, 2017. 16 Replies

Utrophin

Started by Eliane Khoury. Last reply by Keith Van Houten Mar 25, 2009. 1 Reply

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Comment by Char Burke on March 14, 2009 at 11:36am
Keith - One of the parents on this site - listed that he had heard that most boys are diagnosed with DMD b/c when it's DMD, more funds are granted vs. BMD. If you look at the BMD group site, you will see this.
Actually, I see the DMD vs. BMD on a huge spectrum...I know several BMD men who were in a wheel chair in 10 yrs range and don't have upper body use but just don't have the cardiac involvement that DMD men do. Char
Comment by Char Burke on March 14, 2009 at 11:31am
Keith - When Will had the DNA duplication test done at Baylor, the geneticist there said that the duplication was in the range of BMD....I tried and tried to get ahold of the geneticist but he wouldn't talk to me. He recommended a muscle biopsy. That incident lead me to believe that there is an area of the gene - in the 40's that is commonly associated with BMD. Actually, there are, I was told, about 5 areas of the gene where there are popular for duplications. One area is the beginning of the gene, another area is in the 40's ....can't recall the rest. Char
Comment by Keith Van Houten on March 14, 2009 at 11:04am
By the way, our situation is the similar to Rhiannon and Char. DNA results are in-frame, but Dr. Wong says his clinical presentation is consistent with DMD, and the registries list almost all the cases as DMD.

He started on Prednisone in January.
Comment by Keith Van Houten on March 14, 2009 at 10:54am
The easiest tool to look at in or out of frame is this one: http://www.dmdregistry.org/reports/predictor/

When you mention a "BMD zone" - are you asking what the most common mutations are for BMD? That I have not seen. I've seen it for DMD, and I think it's an exon 50 deletion, which is why exon skipping research focused on skipping 51, which restores the reading frame for a exon 50 deletion.

I have seen people discuss that BMD with deletions in the 50's somewhere (can't recall exactly) is linked with earlier heart complications.
Comment by Char Burke on March 14, 2009 at 12:44am
Dr. Wong has diagnosed Will with DMD due to his clinical presentations. We have not had a muscle biopsy but we have had dna tests done at Baylor and participated in Dr. Flannigan's clinical study.
Question - does any one know where the BMD zone area is in the dystrophin gene? I have heard it's in the area of the 40's through to the 50's. Thanks. Char
Comment by Char Burke on March 14, 2009 at 12:41am
So, our son has a duplication of exons 54-57 and if I can rely on the Leiden data base, then his mutation is in frame. Have others used the Leiden tool to determine in or out of frame?
Also - Keith - have you read the article that Dr. Flannigan published about mutations early in the exons being more mild? Char Burke
Comment by Keith Van Houten on March 11, 2009 at 6:56pm
Rhiannon - very interesting. I'm pretty sure Mayo does their own sequencing. Your first test - "Mayo" - is that a test you had done at the Mayo Clinic, or is that the lab name, or both? I'm interested in what lab did the test.

Roxanne - what lab did your DNA test, what mutation did they list, and how did it list the phenotype?
Comment by Keith Van Houten on March 10, 2009 at 9:38pm
Also - are your boys on steroids?
Comment by Keith Van Houten on March 10, 2009 at 9:30pm
Rhiannon - did your DNA test result come back with the phenotype listed as BMD or DMD? Ours said BMD, the local MDA clinic suspected they use the reading frame rule and not the registries. Ours was done through Athena Diagnostics.

Kyle has a DMD phenotype with an in-frame deletion of exon 5.
 

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