Re: Tragic genetic riddle solved for Texas families

[Guest guest]

,

This article was referring to the " X linked infant SMA " , which is different

from the SMA we have. The gene causing X linked is on the X chromosome (thus

traditionally affecting boys like DMD) and the gene deletion causing our SMA

is on chromosome 5 I believe.

Kimi

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Visit my myspace page and blogs: _www.myspace.com/ksmile96_

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In a message dated 1/12/2008 8:41:56 P.M. Eastern Standard Time,

dvlwksp@... writes:

Ok, I'm confused.

First, I thought the gene was found awhile ago which is why you can test for

it through genetic testing. Am I wrong?

Second, what is this 'X-linked infant SMA'?

Milinovich, SMA Type I

Wife to , Mommy to - 9 Months Old!

_http://www.myspace.http://www.m_ (http://www.myspace.com/kindrana)

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?start=0

Tragic genetic riddle solved for Texas families

<_http://www.statesmahttp://www.http://www.sthttp://www.stahttp://www.statehtt

p://w_

(http://www.statesman.com/news/content/news/stories/local/01/11/0111fatalgene.ht\

ml) >

> A team of scientists in the United States and Germany said it has

> discovered the gene that caused the rare disease — known as X-linked

> infant spinal muscular atrophy — that killed and three sons of

> Ann Messer's cousins. It was announced in a paper published Thursday

> in The American Journal of Human Genetics.

>

> The X-linked form is the most severe type of spinal muscular atrophy,

> The more common form of spinal muscular atrophy is believed to

> affect one in 6,000 births, she said. She identified 16 families

> worldwide with the X-linked variety, including the Messers and Ann

> Messer's cousins, who joined the study. She said it's possible that

> many of the 4 percent of the babies born with spinal muscular atrophy

> might actually have the X-linked form.

>

> Because the defective gene is recessive and on the X chromosome, the

> disease can be passed on only to boys, who inherit the X chromosome

> from their mothers and a Y chromosome from their fathers. Girls, who

> have two X chromosomes, can carry the defective gene but won't

> develop the disease, Baumbach-Reardon said.

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[Guest guest]

Ok, I'm confused.

First, I thought the gene was found awhile ago which is why you can test for it

through genetic testing. Am I wrong?

Second, what is this 'X-linked infant SMA'?

Milinovich, SMA Type I

Wife to , Mommy to - 9 Months Old!

http://www.myspace.com/kindrana

http://s174. photobucket. com/albums/ w107/boramir/ ?start=0

Tragic genetic riddle solved for Texas families

<http://www.statesman.com/news/content/news/stories/local/01/11/0111fatalgene.ht\

ml>

> A team of scientists in the United States and Germany said it has

> discovered the gene that caused the rare disease — known as X-linked

> infant spinal muscular atrophy — that killed and three sons of

> Ann Messer's cousins. It was announced in a paper published Thursday

> in The American Journal of Human Genetics.

>

> The X-linked form is the most severe type of spinal muscular atrophy,

> The more common form of spinal muscular atrophy is believed to

> affect one in 6,000 births, she said. She identified 16 families

> worldwide with the X-linked variety, including the Messers and Ann

> Messer's cousins, who joined the study. She said it's possible that

> many of the 4 percent of the babies born with spinal muscular atrophy

> might actually have the X-linked form.

>

> Because the defective gene is recessive and on the X chromosome, the

> disease can be passed on only to boys, who inherit the X chromosome

> from their mothers and a Y chromosome from their fathers. Girls, who

> have two X chromosomes, can carry the defective gene but won't

> develop the disease, Baumbach-Reardon said.

A FEW RULES

* The list members come from many backgrounds, ages and beliefs So all

members most be tolerant and respectful to all members.

* Some adult language and topics (like sexual health, swearing..) may

occur occasionally in emails. Over use of inappropriate language will

not be allowed. If your under 16 ask your parents/gaurdian before you

join the list.

* No SPAMMING or sending numerous emails unrelated to the topics of

spinal muscular atrophy, health, and the daily issues of the disabled.

Post message:

Subscribe: -subscribe

Unsubscribe: -unsubscribe

[Guest guest]

Thank you! I didn't have the answers.

Ksmile96@... wrote on 01/12/08 19:53:

> ,

> This article was referring to the " X linked infant SMA " , which is different

> from the SMA we have. The gene causing X linked is on the X chromosome (thus

> traditionally affecting boys like DMD) and the gene deletion causing our SMA

> is on chromosome 5 I believe.

>

> Kimi

[Guest guest]

Just to confirm what Kimi said. The vast majority of people with SMA have a form

of the disease where the error is in chromosome 5 and this has been known for

almost 10 years. They have SMA type I, II or III depending on the severity.

These forms are also sometimes called Werdnig-Hoffman's disease or

Kugelberg-Welander's disease. They all are inherited in a recessive way and they

affect boys and girls equally.

There are also other forms of SMA which are much much more rare. One of them is

Kennedy's disease. It has long been known that is inherited through the

X-chromosome because it only affects boys. But now it seems they have also found

the precise genetic error.

The precise genetic error has for SMA type I-III has been known for several

years also. However, this has not yet lead to any effective medication.

-Taya

from Finland

Re: Tragic genetic riddle solved for Texas families

Thank you! I didn't have the answers.

Ksmile96@... wrote on 01/12/08 19:53:

> ,

> This article was referring to the " X linked infant SMA " , which is different

> from the SMA we have. The gene causing X linked is on the X chromosome (thus

> traditionally affecting boys like DMD) and the gene deletion causing our SMA

> is on chromosome 5 I believe.

>

> Kimi