I was watching The Learning Channel last night, and there was an episode about a 3 year old boy who has 40% more muscle mass than normal. HIs strength, balance and coordination for his age are incredible. Dr. Eric Hoffman was featured on the show, and he was discussing analyzing the boy's DNA to see if it could bring any insight into Duchenne Muscular Dystrophy. I missed the first 25 minutes of the show and didn't hear what, if any, diagnosis the boy has. Was anyone else watching this?

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Hi,
I did not see it but I looked it up and he has myostatin-related muscle hypertrophy.
Here is a link to an article I found on it :
http://www.mlive.com/news/muskegon/index.ssf/2009/06/liam_hoekstra_...
I had heard about another boy in Germany who also has this. Very interesting.
Thanks for the link to the article Eileen. Since this was filmed in February, I wonder if Dr. Hoffman has already analyzed Liam's DNA, and if there were any preliminary findings. On another, somewhat related subject, I remember awhile back reading about 3 brothers in Missouri who have DMD, but did not display any of the symptoms. At that time, I think all 3 were already teenagers. They were going to be "guinea pigs" for research also, but I never heard anything more about that. I'm going to see if I can follow up on that.

Eileen DeLong said:
Hi,
I did not see it but I looked it up and he has myostatin-related muscle hypertrophy.
Here is a link to an article I found on it :
http://www.mlive.com/news/muskegon/index.ssf/2009/06/liam_hoekstra_...
I had heard about another boy in Germany who also has this. Very interesting.
IT was amazing... I was watching whil;e on the phone w/ another DMD mom - we were both stunned. He is the exact OPPOSITE of our sons - Incredible!!! And when they mentioned Duchenne, I almost cried. Apparently, they are still researching what he may have.. but it may hold the key to DMD. They mentioned Myostatin (myostatin inhibitors...) - another DMD mom said it's on PPMD site, somewhere.
I actually contacted that family with the 3 boys. They do have symptoms but were doing really well and yes they were being looked at closely to see what was different with them.

Terry Porcaro said:
Thanks for the link to the article Eileen. Since this was filmed in February, I wonder if Dr. Hoffman has already analyzed Liam's DNA, and if there were any preliminary findings. On another, somewhat related subject, I remember awhile back reading about 3 brothers in Missouri who have DMD, but did not display any of the symptoms. At that time, I think all 3 were already teenagers. They were going to be "guinea pigs" for research also, but I never heard anything more about that. I'm going to see if I can follow up on that.

Eileen DeLong said:
Hi,
I did not see it but I looked it up and he has myostatin-related muscle hypertrophy.
Here is a link to an article I found on it :
http://www.mlive.com/news/muskegon/index.ssf/2009/06/liam_hoekstra_...
I had heard about another boy in Germany who also has this. Very interesting.
Are they teenagers and still walking? Have they looked at their DNA, mRNA? What type of mutation do they have in dystrophin?

Eileen DeLong said:
I actually contacted that family with the 3 boys. They do have symptoms but were doing really well and yes they were being looked at closely to see what was different with them.

Terry Porcaro said:
Thanks for the link to the article Eileen. Since this was filmed in February, I wonder if Dr. Hoffman has already analyzed Liam's DNA, and if there were any preliminary findings. On another, somewhat related subject, I remember awhile back reading about 3 brothers in Missouri who have DMD, but did not display any of the symptoms. At that time, I think all 3 were already teenagers. They were going to be "guinea pigs" for research also, but I never heard anything more about that. I'm going to see if I can follow up on that.

Eileen DeLong said:
Hi,
I did not see it but I looked it up and he has myostatin-related muscle hypertrophy.
Here is a link to an article I found on it :
http://www.mlive.com/news/muskegon/index.ssf/2009/06/liam_hoekstra_...
I had heard about another boy in Germany who also has this. Very interesting.
I happened to catch just the first part of that TLC show in my hotel room this week - but didn't get to see the end. I was wondering if they might mention MD.

It sounded like this boy was not producing myostatin. They said it only effects skeletal muscle. Not cardiac.

Did they mention in the show if this was due to a genetic defect? If so, one would wonder if it would be possible to create a deletion, or disruption in that gene, to prevent the production of myostatin in DMD boys.
I was at PPMD Conference in Atlanta & PTC Therapeutics has a Myostatin drug in the pipeline. I think that is similar to the Liam strongest Toddler issue. They discussed Myostatin Inhibitors. This is our SONS time... I can feel it. The conference really got us excited about the future.
Perlita: Thank you for your response. My daughter and I were not able to attend the conference this year so I'm glad you told me about this. I love your last statement. It was a real mood booster for me this morning. Thank you, Terry
Did they mention at the conference if the myostatin drug is a gene therapy, or a conventional drug?
Keith,

Read this link for info on myostatin inhibition drug (ACE-0 31) with possible application to DMD. This is the one that they spoke of at the conference. Not a gene therapy, rather a recombinant protein/decoy receptor.

Best,

Carrie
Hi P & G Hains,
I missed the conference and don't have any information on PTC's myostatin program. While at PTC's website I tried to find out more and was unable. Does their myostatin have a different name or is it way early in the planning stages?
thanks!
cheryl

Perlita & Gordy Hains said:
I was at PPMD Conference in Atlanta & PTC Therapeutics has a Myostatin drug in the pipeline. I think that is similar to the Liam strongest Toddler issue. They discussed Myostatin Inhibitors. This is our SONS time... I can feel it. The conference really got us excited about the future.
carrie said:
Keith,

Read this link for info on myostatin inhibition drug (ACE-0 31) with possible application to DMD. This is the one that they spoke of at the conference. Not a gene therapy, rather a recombinant protein/decoy receptor.

Best,

Carrie

Thanks, Carrie....

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