Spinal Muscular Atrophy

Spinal muscular atrophy: What is it?

Wed, 02 May 2012 12:01:31 -0700 Spinal muscular atrophy is a group of diseases that affect the motor neurons of the spinal cord and brain stem. SMA is genetic; a person must get the defective gene from both parents to be affected. read more http://www.globalpost.com/dispatch/news/health/120502/spinal-muscular-atrophy-what-it

'Avery's Bucket List': Five-Month Old Girl With Spinal Muscular Atrophy Dies

Tue, 01 May 2012 09:11:34 -0700 Avery Canahuati, the five- month-old girl with spinal muscular atrophy whose inspirational bucket list went viral online, died Monday of pulmonary complications from the disease. The little girls lung collapsed and she went into cardiac arrest Monday afternoon, her father, Michael Canahauati wrote in… http://news.yahoo.com/averys-bucket-list-five-month-old-girl-spinal-161134499.html

Spinal muscular atrophy: Avery Canahuati of Bucket List blog dies at six months old

Tue, 01 May 2012 11:46:18 -0700 Avery Canahuati, the daughter of Mike and Laura Canahuati of Bellaire, Texas, died after battling spinal muscular atrophy. Her parents created a blog detailing a 'bucket list' of all the things she wanted to do. http://www.dailymail.co.uk/news/article-2137980/Spinal-muscular-atrophy-Avery-Canahuati-Bucket-List-blog-dies-months-old.html?ITO=1490

Spinal muscular atrophy: What is it? | Home Business

Spinal muscular atrophy, th disease tht klld Baby Avery Lynn Canahuati, a genetic disorder tht kll more babies thn n thr genetic disease. Avery Lynn Canahuati, th "bucket list baby" wh w born n November … http://www.homebusinessadvocacy.com/spinal-muscular-atrophy-what-is-it.html

Spinal Muscular Atrophy, What Parents Should Know

If you were asked which genetic disease is the number one cause of death among babies in the United States, chances are spinal muscular atrophy would … http://www.emaxhealth.com/1275/spinal-muscular-atrophy-what-parents-should-know

Spinal Muscular Atrophy: Avery's Bucket List Blog Raises …

A newborn baby's battle with spinal muscular atrophy inspired her parents to start a bucket list blog. HULIQ reports on Avery's Bucket List blog, a site that aims to spread awareness of Avery's illness, which progressively … http://www.huffingtonpost.com/2012/04/28/spinal-muscular-atrophy-averys-bucket-list_n_1461621.html

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Current Concepts in Childhood Spinal Muscular Atrophy, L. Merlini, C. Granata, E

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6 Responses to Spinal Muscular Atrophy

  • Anonymous says:

    How To Help/what Can I Do For My Former Teacher? When i was in 4th grade, i had this awesome teacher named mr. Casten. He was by far the best techer i’ve ever had. He had two beautiful children. After that school year, he and his wife had another daughter named Ella. A couple years later, when my younger brother got mr. Casten for his 4th grade teacher, something went wrong with Ella. She was diagnosed with SMA, or Spinal Muscular Atrophy. It is a rare and deadly disease. With no cure, Ella will live a short life. Mr. Casten’s world was turned upside down. There was many fundraisers. Keep in mind, me and mr. Casten had a special, i guess, “connection” when he taught me. Today, the largest of all fundraisers was held. Many,many people showed up, even Keenan Cahill!! So, i just feel so bad for him, and it just breaks my heart. I’ve been wanting to help, but i dont know how. At the fundraiser, me and my best friend went and gave him a hug, and gave him Oreos (his favorite food). He said thank you for coming. I just really want to show my appreciation for him. And we had a conversation on facebook, here it is. Oh, by the way, he hates pears. And i love joking around with him. Me:Hi i know you dont want to facebook with me, but say hi to ella for me!! And eat some pears!! Bye!
    Him:I will say hi…I am holding her hand while she falls asleep…I will not, however, eat pears.
    Me:Hahahaha thanks 🙂
    It just touched my heart…he said he was holding her hand while she falls asleep…she’s now in the hospital…
    Oh, I’m tearing up. Thank you for all your help. Also, I’m only in 6th grade, so i can’t donate a ton of money or anything like that. THANK YOU!! ;(
    i think she’s 1 1/2 yrs

    • Curator says:

      The only thing you can do is be there for him. A little girl (nine) died of this and it came as a shock to everyone because she was doing so well! She was born with it and because of it hadn’t been able to walk or stand on her own but about a month before she pasted away for the first time ever she stood up on her own.

  • Anonymous says:

    Between The Categories Of Gametic And Somatic Mutations, Where Does An Autosomal Recessive Mutation Belong? I’m writing a paper about SMA, Spinal Muscular Atrophy, which is an autosomal recessive genetic disease. I am uncertain as to what place it holds between Gametic and Somatic mutations.

    • Curator says:

      You are mixing two categories that do not overlap. SMA is an autosomal recessive genetic disease which tells you that the gene that is mutated occurs on a somatic chromosome – one of the numbered chromosomes, not on one of the sex chromosomes (X and Y). In this case, SMA is due to a gene on chromosome 5.

      Gametic or somatic mutations describes what kind of cell the mutation occurs in when it first takes place. Somatic mutations are in body cells and mutations in these cells are not passed on to the next generation since somatic cells are not involved in forming egg or sperm. Gametic mutations take place in cells the will become egg or sperm (gametes) and so the mutation is passed on to the next generation.

      Since SMA is due to a recessive mutation, both parents must have at least one copy of the mutation (heterozygotes) to pass it on unless it is a new gametic mutation from that individual. But since it is recessive, the parents could just be carriers with the original mutation occurring many generations earlier.

  • Anonymous says:

    I Have A Question About Pennsylvania Law/family? I am going to move to Pittsburgh in Jan. 2012. I live in California now. My three boys & my ex-wife live in Pittsburgh, Pa. My boys ages are 16, 14, and 13. Here is the story. Since the divorce I had my kids, 100%. Did not have to worry about the ex, anymore! She had 6 different boyfriends while we were married! I found out later whether my boys REALLY where MY boys. My (now ex) did not even know. Well, the doctor said they are ALL mine! That (the divorce) happened March 18, 2009. July 6, 2010 however I had a BAD stroke. I could not walk or talk. My ex-wife then took our boys and moved. She said not a word, just moved. Well, I had to get OUT of that hospital; I re-learned to walk & talk and then got out of there! Took about 2 months. After I got out of there I found out my kids where gone, no-where. Even my ex-mother-in-law had no idea! Well I was a bit of a detective before. I found where my kids where at. Pittsburgh! That is why I am moving there, 3 GOOD reasons! Question… is there some way for me to get my kids back? The law… etc…? I now (because of the stroke) I have SSI. My ex also has SSI because she has scoliosis. One of my kids also has SSI, Spinal muscular atrophy. I want my kids because I love them more than life itself but honestly, if the court wants to know how much I can do with my kids, the money and all… Well, my ex takes care of herself and the 3 boys due to SSI x 2. Same here. She can take care of them, SO CAN I. A friend of mine said that when they are 14 years old or older they can decide, they just need to talk to the court. The problem is, I have NO IDEA if this is correct! When my friend, “Steve” says … anything, no idea if he is correct. He lies about 50% of the time. IS “Steve” correct? What is correct?

    • Curator says:

      The children can choose when 14 but it is still up to the judge if they allow it. Probably shared custody will be your best approach first and later go for full.

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