Jan,
This morning I was TV surfing and came across a news cast about a super kid on Fox. All they said was that he had a rare genetic mutation...however, that kid at age three reminded me of what my son's muscles were like. Huge muscles, very strong. I'm wondering if you saw it or can find data about it because as I watched that kid he might of been the "superman" they described now, but the hurting kid later. It was a brief clip about a rare genetic mutation that dealt with neuromuscular issues. I would hate to think that this family thinks they have a super kid with great strong muscles that did not come from working out but or going to be paramount issues in the future.

Curious if you saw it. Was this kid a Thomsen's or Becker's kid? Just not diagnosed as so many of our kids are not or adults are not until years later? They never put a label on this kid but they also said they ran out of time for the segment.

What say you.

http://www.foxnews.com/story/0,2933,123645,00.html

Does not look like it was either, but a different kind of situation altogether. lois

I sent an email to Fox and asked them if they identify the condition and if there was a link to the segment. I'll let you know if they respond.

Jan

Despite studying the boy since an early age and writing a paper on him there's no mention as to what his condition might be.

I inferred from the article that rather than being a known disease like Muscular Dystrophy or MC this might just be a unique mutation at a genetic level that results in this boy being physically very strong, as some people tend to be without ever having a recognised condition or disease.

However, they study might provide some possible genetic treatment for adverse muscle conditions in the future - now that's a hope worth having!

They said it's a mutation in the DNA that signals muscle development (it tells stem cells to turn into muscle). I did find an article which I'll paste in below where researchers checked children with MC to find out if they had a higher level of mystatin expression, but it was normal. Our hypertropy is just from plain old isometrics.

Jan

J Child Neurol. 2007 Jan;22(1):38-40.

Muscle myostatin expression in children with muscle diseases.

Castro-Gago M, Gómez-Lado C, Eiris-Puñal J, Carneiro I, Arce VM, Devesa J.

Departamento de Pediatría, Servicio de Neuropediatría, Hospital Clinico Universitario, Santiago de Compostela, Spain. pdcastro@usc.es

The demonstration that myostatin may negatively regulate muscle mass in adult individuals has raised the possibility of targeting the myostatin pathway to increase muscle growth in a variety of muscle-degenerative and -wasting conditions. To gain further insight into the possible role of myostatin in primary muscle diseases, the authors investigated the expression of muscle myostatin in children with congenital fiber type 1 disproportion, in others with neurogenic muscular atrophy, in others with myotonia congenita, in others with infantile glycogenosis type II, in others with Prader-Willi syndrome, and in 4 age-matched controls. No differences in the pattern of myostatin expression were found in any case, even in those patients with prominent muscular atrophy or hypertrophy. These findings suggest that muscle alterations that can be observed in primary muscle diseases do not depend on changes in myostatin expression.

Thanks for all your responses. I thought the segment was interesting and was wondering.