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Spinal muscular atrophy

Avery the 'bucket list' baby dies after inspirational battle with spinal ...
At just 5-months old, Avery Canahuati, who suffered from spinal muscular atrophy, took her last breath on Monday. Her father Mike Canahuati posted the sad news on the blog, “Avery's Bucket List,” where the family, in infant's voice, compiled a list of ...

'Night of Hope' to benefit babies with muscular disease
San Clemente-based Hope for SMA, which works to fight spinal muscular atrophy, will present a dinner-and-entertainment fundraiser Friday night at Franciscan Gardens in San Juan Capistrano. 50% off! $25 for $50 in GolfHub Bucks towards Green Fees By ...

Arpaio to release new Obama eligibility information
Avery Canahuati was diagnosed with Spinal Muscular Atrophy, or SMA, which leads to weakness in the muscles,More >> A sentence was handed down for two Shreveport men convicted of burglarizing several vehicles and shooting a Ruston, Louisiana police.

Walk will raise funds for Wishes
Logan, 12, of Brewer who lives with spinal muscular atrophy, will visit Walt Disney World to have a Jedi Training Academy experience at Hollywood Studios thanks to Make-A-Wish Maine and previous donations to the organization.

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landrumlrmeliss RT @fbbernard: Inspiring Averys Bucket List: Five-Month Old Girl With Spinal Muscular Atrophy Dies

Russelloswdn RT @MockTV: Averys Bucket List: Five-Month Old Girl With Spinal Muscular Atrophy Dies http:tcoIdemaQRe

LearnToGoogle Interesting on Google: spinal muscular atrophy http://t.co/aGtRKWBz

Ellen_Logan 'Avery's Bucket List': Five-Month Old Girl With Spinal Muscular Atrophy Dies http://t.co/dX0d5VQf

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

maglimsh 'Avery's Bucket List': Five-Month Old Girl With Spinal Muscular Atrophy Dies http://t.co/ZYIjlVCr - this is too sad :(

vozolyx spinal muscular atrophy: ... http://t.co/p4vEjS0V

Twit2BundaQaid SPINAL MUSCULAR ATROPHY disease : Avery Lynn Canahuati of Bucket List blog dies at six months old.. http://t.co/KVQtmSMo via @MailOnline

pybasywy spinal muscular atrophy: ... http://t.co/Nj2XzrcN

wagonworld Avery's Bucket List: 5 Month Old With Spinal Muscular Atrophy Dies - she did more than most of us do in a lifetime! http://t.co/n6rfOhjh

MockTV 'Avery's Bucket List': Five-Month Old Girl With Spinal Muscular Atrophy Dies http://t.co/IdemaQRe

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

boylesxdimple RT @SpinaMuscuYBG: Spinal muscular atrophy: Avery Lynn Canahuati of Bucket List blog dies at six months old

JonathanLau89 Dying Baby Girl Goes Viral http://t.co/BG8sx7LC via @PerezHilton

Anyila 'Avery's Bucket List': Five-Month Old Girl With Spinal Muscular Atrophy Dies | ABC News Blogs - Yahoo! http://t.co/kODDGq7e #fb


Want to help find a cure? by Blessed Q: My 7 month old baby boy lost his battle to Spinal Muscular Atrophy on August 2, 2008. I miss my baby boy deeply. He is my hero and with your help we are one step closer to finding a cure. If you would find it in your heart to help find the cure please visitCURESMA.ORG Spinal muscular atrophy (SMA), the #1 genetic killer of children under the age of 2, is an often fatal disease that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing. In Loving Memory of my precious baby boy Francisco Rodriguez, Jr.

A: My deepest condolences for the loss of your baby and hopeful wishes to you and yours during this time of grief.

about clomid, i really need ur help please!? by GR33N 3Y3S Q: i am 2 days away from being 19. about a week ago i was diagnosed with PCOS, the doctor did a vaginal ultrasound. i have been having unprotected sex for 4 years now, do not judge me please. ive been with the same guy for almost 5 years now and i have never been PG. so after the doc told me that she said i need help if i want to get PG. ive been really trying for 2 years now, i have a disease called Spinal Muscular Atrophy and in a wheelchair losing my muscles faster then id like to, so im really trying early so while i still have the stregth to take care of a newborn. but anyways went to the fertility doctor today told him the other doctor told me to make an appointment with him that i need clomid. so i did went in there today confident and happy, told him my story and wat i needed and he said absolutely not im 18 on medicaid he would be laughed out of the medical field if he did this and im balling my eyes out while hes blank faced shaking his head no no no, i finally had enough after he said naturally is the only way. my question to u is, is this fair or right.? also my sister who too has spinal muscular atrophy had a baby 8 months ago and wen she went to him for something he wanted her to get a abortion if he had SMA my sister said out of the question never, then he wanted her to get the thing wen they put the needle into her belly to get some fluid knowing this may cause her to lose the baby but never said tht to her. my mom thinks that this "DOCTOR" doesnt like the fact we cnt walk cuz he made it known to my mom that wen my sis has her baby she will be the one taking care of him. HELP is this right.???? @lanie, i already knew id have to pay for it. i have no problem with that. as for taking it personally. well wouldnt u after so long of TTC and BAM ur knocked down and ur hope is gone.? DR's are people too, that doesnt make him better then me.

A: IT'S YOUR SISTER BY THE WAY LOL! LOVE YOU SIS AND DONT LET ANYONE PUT YOU DOWN THEY ARE RATARDS AND DON'T KNOW SHIT ABOUT US......IM 110% BEHIND YOU ON ANY DECISION YOU MAKE LOVE YOU MUCHO!!!!!!! First of all I am mother of a BABYBOY AND HEALTHY....Who is 8 months old February 23, 2010 I gave birth C-section. He was 8 pounds 15 oz 22 inches long.......I have Spinal Muscular atrophy. My pregnancy went wonderful I've seen "NORMAL" Healthy people have kids and had a lot of complications.....and i had no complications with my pregnancy and with the c-section. All the nurses and Doctors were amazed how well I did...... I am wonderful Mother I love my son He's my world. I do a lot for my son AND I DO TAKE CARE OF HIM!!!!! With a little help from his Daddy. So who are you people to Judge us on what we want and can have....Just cause my sister can't get pregnant like I did......ON HER OWN...... Then what's the difference of her needing a little extra help. And the doctor can't help her out because he's a Jerk. What I want to know is how many babies he has delivered That the Mom has gave up and the moms who have killed there babies. the moms who don't take care of there babies.....That's what i want to know. BECAUSE I KNOW IF HE HELPED MY SISTER OUT SHE'S WOULD BE A REALLY GOOD MOTHER. He said his medical field would be laughed at if he help my sister. That's wrong he is Judging my sister because of the wheelchair which is wrong! First of all to the girl who has spinal bifida Who the hell gave you the right to Judge....I was 8 weeks pregnant and the doctor was telling me about if my child had SMA if i would get an abortion(THE WAY HE PUT IT EVEN MY MOM HEARD AND THINKS THE SAME) and to get the needle in my belly to check even though you can have a miscarriage...So basically he's telling me I don't belong here either because I'm in a wheelchair......So that's okay right..NO ITS NOT. ..When I was pregnant I went to a specialist about my baby seeing if he would get SMA......His answer was to me was since I have it I'm a carrier and if my boyfriend has the gene too then there is a big chance of having a baby with SMA too....and he also said to go get my boyfriend TESTED. (which came out negative) So that dropped down to a 1% chance my baby would have it. My baby is healthy and I thank god for that everyday but if he had it I would love him just as much........... I have it and I'm as normal as can be. I love my life even if I am in a wheelchair... My son is the love of my life and I will do what ever it take to make sure he is taken care of. I feed him, I give him baths everyday even 2-3 times I change his diaper and hold him and play with him. I'm there when he's sick, I'm there getting him to sleep at night..IM ALWAYS THERE HES WITH ME 24/7 EVEN WHEN I GO TO THE STORE OR THE DOCTORS HES WITH ME..... Just need a little extra help with him. And his Daddy helps too he does things I can't do like pick him up out of his crib or put him in the high chair so i can feed him or put him in the tub so I can give him a bath.... My boyfriend decided to get with me because he loves me and I'm just like everyone else... We decided we wanted a baby together because we love each other and wanted to have a family of our own....He tells me I'm a great Mother and My son and him are lucky to have me. SO WHO GIVES YOU THE RIGHT TO TELL MY SISTER EVERYTHING YOU JUST TOLD HER. YOU DON'T KNOW US I'm going to be 21 in a month I'm able to use my arms and do my hair and make up and take care of my son. I am not on a vent. I feed myself shower myself. I walked till I was about 10 years old I do a lot more then most people with SMA. I am a fighter I fight for what i believe in and I will not ever give up. And I will make sure my sister doesn't either she will fight till she gets what she wants. I KNOW FOR FACT SHE WILL BE A GREAT MOTHER. She is a wonderful Auntie and i know how long and bad she has wanting a child of her own. So don't tell us we are going to die seriously shut up you DON'T KNOW US YOU DON'T LIVE OUR LIFE....UNTIL THEN YOU CAN'T TELL US CRAP.......There are Normal people out there who are mothers fathers grandparents sisters brothers cousins aunts and uncles who loose there lives everyday.....No one knows when there going to die no one has a time limit on them. Everyone is different!

Would you have a child if...? by Lynxpardina Q: Would you have a child if you had a genetic illness such as cystic fibrosis or spinal muscular atrophy? Suppose your partner is a carrier. You would have a 50% chance to pass the illness to your child. Would you have him/her through natural ways and hope that he/she doesn't get it(which makes him/her a carrier), would you go to a clinic so that they can choose a zygote without the illness or would you adopt a child?

A: i would never have a child. nomatter what condition or whatever.. i don't understand why people do that to themselves, have children

Nonprofit? or Foundation? by Q: A friend of mine just had a child diagnosed with Spinal Muscular Atrophy (SMA). I am getting some fundraisers together and putting them into an account specifically for the baby. Most places will not sponsor or donate large amounts of money of items without a nonprofit status or something similar such as a foundation or chairity. If I were to start one of these, which should it be?.

A: You can't do either. it is illegal to solicit money without a license. and they only give those to valid nonprofit corporations with IRS tax exempt status. it is illegal for any nonprofit to give its benefits only to one person. A foundation is a nonprofit corporation that gives money to other nonprofits.

Could you all help me with saving my daughter?? by Mindi F Q: According to national news the House of Representatives has passed the bill for Stem Cell Research. Thats great news!! But also according to national news Bush plans to Veto the bill yet agian!! Thats bad news!!! Stem Cell Research is essential to finding a possible cure for many many diseases including Spinal Muscular Atrophy, which is what my beautiful daughter has!! No one deserves to go through what this little girl has to go through everyday! If you want more information on the disease visit www.fsma.org. Now what I want everyone to do is send me (via email) your full name, address, and any comments you may want the so called "president" to know and I will print out everything and send it to the white house along with a picture of my little girl just so he can see who he is hurting by vetoing this bill. So please do this for my baby and any other person in this world who may be searching for some kind of light at the end of that long dark tunnel! Thank you! Rob & Mindi Frantz

A: It's so good to know people so concerned, and occuppied for the good of your family, and maybe for the good of a lot of other people like your daugther, having the same desease. I'd love to help, but i am not american. I'm from Mexico, so i don't think any letter, opinion or idea i send to you would help at all. But good luck on your figth. And love to your daugther. Remember to let everything in god's hands.

Genetics help please!? by Read My Poker Face ♥ Q: I have this project in school for the Spinal Muscular Atrophy Disorder. I need the medical term and some informational websites please and thank you!! (:

A: http://www.ninds.nih.gov/disorders/sma/detail_sma.htm http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/neuro/sma.html http://jmg.bmj.com/cgi/content/abstract/15/6/409 This one ^^ might be a very good resource http://www.muschealth.com/gs/healthtopic.aspx?action=showpage&pageid=P02623 http://www.nature.com/scitable/topicpage/Medical-Ethics-Genetic-Testing-and-Spinal-Muscular-666

my son is disabled and has sma and a g tube does his dad still have every other wkend rights in texas? by Q: spinal muscular atrophy is 5 months old and on a g tube feeding tube

A: Given the nature of your son's disability, it MIGHT be that you could ask that the visitation be suspended UNTIL his father is trained to care for his medical needs IF he is not already. You could also ask that some minimum standards be met in terms of what is available to your son in terms of access to a hospital, cleanliness in the home, etc. (But these things need to be met by you also.) Just because your son has a disability does not mean the father is not entitled to visitation - it simply means he should be able to meet a standard of care your son requires to be safe.

my life expectancy should be about? by the gambler Q: i have spinal muscular atrophy type 2-3 and was diagnosed at 18 months old. i am now 13 and recently was told my level of sma is nearly 3 now. i'm slightly worried though, so, bearing in mind that i'm quite healthy, what should be my approximate life expectancy? when i was diagnosed, they said i'll have a normal life span.

A: You could be perfectly healthy, and still come to an early end. Stressing about the future will only cause more stress, angst, and anxiety, which will shorten anyone's life. Chill, and try only to think about (and be grateful for) "today".

has a medical mal practice suit ever been won regarding spinal accessory neuropathy? by HeatherG Q: I had a surgery ten years ago to have a lymph node removed in the trapezeous region of my neck. I just recently was diagnosed with muscular atrophy due to right spinal accessory neuropathy and suddenly realized the connection with the surgery I had years ago. Doctors dismiss my pain and offer no solutions other than physical therapy. I want to know if there is a case against the hospital or doctor who performed the surgery. Although the surgery took place long ago I was only diagnosed recently. I believe the law states I have one year from the time of diagnosis. Someone correct me if I am wrong. I appreciate any suggestions!! I am from the state of Louisiana.

A: Your perception is on target. There definitely are statues of limitations and liability that protect medical institutions and insurance companies from such suits. The time is long past. Actually the clock starts ticking at the time of services performed, in other words, at the time of surgery. Do not give in or give up. We are made to be healthy, so in spite of doctors, get into your own regimen of exericise as simple as walking every day and good nutrition. That will go a long way to help your overall feelings of self-worth, control and general health.

A way to stop shaking hands? by Cole Train Q: I have a neurological disorder called Spinal Muscular Atrophy. One problem, besides being in a wheelchair is that my hands shake all the time. Not bad enough to spill a drink, but enough to bother me. Is there anything I can do to help it? P.S. My grandpa has Parkinsons and shakes really bad, what can I do to help him?

A: There are a limited number of drugs to treat the tremors of parkinson's, but they are not always very effective.. Your best best is to check with your neurologist..

Are other countries as obsessed over telling people what to do as America is? by Smokey Q: If not, then why is it that Americans are like this? As a Libertarian, I am apalled by the hipocracy of anti-smoking organizations, anti-obesity movements, anti-abortion protestors and even most vice laws. Was the Constitution not clearly defined enough? I mean, what do people care what other people do if it doesn't affect them? What really bugs me is when people use words like "epidemic" in regards to obesity; "parent education" when it comes to parenting; or even "disease" for alcoholism. I'm sorry, but I was born with Spinal Muscular Atrophy; I've never walked before in my life and THAT, my friend, is a disease. Sorry, I just had to vent. By the way, I must not have made it clear enough. I DO NOT SUPPORT CHILD MOLESTATION.

A: I agree with you on most points. However, it's not wise to assume that what other people do doesn't affect someone else. So where should we draw the line? Should your neighbor be allowed to beat his wife or molest his child? Why not, it doesn't affect you? So it's illegal, it wasn't always illegal, and if that's the case, abortion used to be illegal too? Should we legalize child molestation now? According to you, who are we to say anything when it doesn't affect us. I understand your point, it has gotten out of hand in some ways. And alcoholism is a disease that affects everyone around them. You should focus more on your bitterness and not be so selfish. Just b/c it doesn't affect you, doesn't mean it isn't wrong. *I know you don't agree with child molestation. I said that to make a point. God bless. :o)

When did you become disabled? by DisneyMagic Q: I've had my disability since I was a baby. I have Spinal Muscular Atrophy type 3 ... a form of muscular dystrophy. Just wondering .. were you born with your disability or did you get it later in life? Have a nice day/night

A: When I was 22. (spinal cord injury).

jobs for kids with physical disabilities? by Regan S Q: i am 12 yrs old, i cant walk, and i need some $$$. i would like a online job, but acting would be ok. i have spinal muscular atrophy.

A: ever hear of child labor laws in the US------kids aren't supposed to work.... once yu are 14--you canget working papaers and look for a job if your fmaily is low income--you are eligible foe SSI

Will you sign this petition for my 20 month old nephew? by badb0y969 Q: My 20 month old nephew suffers from Spinal Muscular Atrophy with Respiratory Distress (SMARD). Please the attached newspaper article concerning him. http://www.news-journal.com/search/content/features/stories/2009/06/25/06252009_cure_sma.html Please sign the petiton at www.petitiontocuresma.com Any help is greatly appreciated.

A: I signed. Best Wishes for your nephew. He is in my prayers.

i need male physiotherapist for myself is there anybody? by mohini s Q: hi i am mohini sharma i need male physiotherapist for myself i am having problem of spinal muscular atrophy it is motor nuron deasies i am totally wheelchair bound and there is no medicine for this problem but only excercise and as my weight is around 60-65 so i need male physiotherapist who can comfotably move me.

A: Without knowing where you are, I don't think anyone can help you with this question.

Common Genetic diseases Test in pregnancy? by Q: I am 20 weeks pregnant. I have done the California parent screening. I am not sure if I should do this test as well. Carrier Testing for common Genetic Diseases (Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X Syndrome), my doctor said it is optional, neither I nor my husband have these Diseases in our family, should I take the test or not?

My Aunty has depression and is in hospital for it and I dont know how im meant to feel? by Q: I feel confused and a bit upset.She had cancer and was treated for it,and then her 2 year old son was diagnosed with spinal muscular atrophy.She's such a lovely person and its awful that all of this has happened to her :I sorry but I had to talk about it I dont know what I can do and should I do something? Im not a troll

A: You can't force yourself to feel anything. Just be there for your aunt. She needs your empathy.

if you could cure one disease or sickness what would it be? by Q: if you say cancer please say what kind. i would cure spinal muscular atrophy. my niece has it.

A: Of course Diabetes mellitus. More than 300 million people r suffering from it.

How much to charge at bake sale? by Q: We are having a BBQ / Bake Sale tomorrow for my cousins 9 month old son that has been diagnosed with Spinal Muscular Atrophy SMA to help with medical bills and we didn't know how to price the cakes ,cookies, pie etc. I know someone is making a pecan pie and im making a box cake mix in a bundt cake pan with strawberry's in the middle and one with blueberry's in the middle any help would be great thanks

A: For the cookies, probably 50 cents each. But with pieces of pie and cake, probably $1.50 or $2. It might not seem like a lot at first but it gets added up quickly. I really hope he is okay and you get enough money for the medical bills! Good luck ♥ P.S. If they know it is for a good cause, they might be generous. Also have a little jar for donations of people don't want to buy anything but still want to give like, $10.

Diseases of the Muscular System? by Q: So far I have done: ALS,Muscular Dystrophy, and Spinal Muscular Atrophy. I need 2 more muscular diseases or disorders. Anything? I waz thinking Polio and Tendionitis... would those work? Oopz.... btw this is for a science project XD

A: rhabdomyolysis tendonitis

Where can i find an online video of house episode merry little christmas? by -__- Q: i really want the part where he is talking to the little girl in the cafeteria “Can I have a French fry?” She asked House. “Get your own.” “You took the last ones.” “What's wrong with you?” “I've got spinal muscular atrophy.

A: watch it on google

Between the categories of Gametic and Somatic mutations, where does an autosomal recessive mutation belong? by Q: 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.

A: 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.

How do I go about placing an article in the newspaper to raise awareness? by Blessed Q: Our baby boy just went to Heaven in August of 08 due to (SMA) Spinal Muscular Atrophy. We want to help raise awareness on Spinal Muscular Atrophy and want an article in the paper dedicated to SMA. How do we go about doing this? SMA is the #1 genetic killer among infants under the age of 2. Currently, there is NO CURE for SMA. visit www.FSMA.org for more info

A: First of all, my condolences on losing your child. It is amazing that you are able to even think of helping others at this time. I would start with a letter to the editor, including the information you have stated here. I can't imagine why they wouldn't run it - but some papers have a policy where all letters must tie in to a recent news article or feature. If your paper has a policy of asking members of the community to become guest contributors, they generally ask that you submit a few articles - and what you write on SMA might well run as an article later. Finally, had you considered a wider audience, such as Dear Abby? Sometimes they will run notices such as yours, I seem to recall. You might also write to Dr. Peter Gott, if he's featured in your paper - or just write to him, period. But since it's a Q-A kind of thing, you would probably want to write with a question, such as "Dear Dr. Gott, I recently lost my infant child to SMA. Is there any way we can get information out to the public about ways to prevent this condition?"

Muscular Atrophy? by Erica Q: What is the difference between Spinal Muscular Atrophy & Progressive Muscular Atrophy? I'm doing some research on PMA, but I'm finding a lot on SMA & very little on PMA. Are they the same condition? Is SMA a variation of PMA?

A: I think one is genetic and your born with it and the other you can accquire over time

Spinal Bulbar Muscular Atrophy? by fruity pebbles Q: what is it? what is its cause? whats the disease process and what does it do to cause a problem? what do they do to diagnose it? support group information?.....please help

A: Spinal Bulbar Muscular Atrophy, or Kennedy's disease for short, is a genetic defect that causes muscle cramps and progressive weakness due to degeneration of nerves in your brain spinal cord. Symptoms usually begin appearing between the ages of 30 and 50 Only men are affected by it, with Kennedy's disease in women extremely rare. They test your DNA in order to find the genetic defect that causes it. A good online support group can be found at http://www.kennedysdisease.org/index.html

i have a branch of md called spinal bulbar muscular atrophy and i was just wondering if i coulld help? by vikes51349 Q: in any branch of the service i wish i could go be with the younger kids over there but i would slow them down is there anything i could do?

A: Oh, wow... god bless you for wanting to give despite what life has dealt you! That's WONDERFUL. You should go talk to someone at a recruiting station, perhaps they could give you some ideas.

hi.. i wanna know about the use and success rate of stem cell in spinal muscular atrophy..? by shikha p Q:

A: Hello Shikha, To be honest, I could not find any information on stem cells being used on humans to manage or treat spinal muscular atrophy. Gene reviews [with a date of 2006] (http://www.genetests.org/query?dz=sma ) described several therapies, but none involving stem cells. I also searched the following: MedlinePlus..spinal muscular atrophy [http://www.nlm.nih.gov/medlineplus/spinalmuscularatrophy.html] going directly to the links Clinical Trials and ... NINDS Spinal Muscular Atrophy Information Page [ http://www.ninds.nih.gov/disorders/sma/sma.htm ] I also tried searching PubMed (citations to medical literature).. but it seems to be down this morning. PubMed [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed ]is a free online product of the US National Library of Medicine, indexes medical articles from the 1950's to the present. Unfortunately, most of the articles are not freely available on the Internet... So, I am not sure if this is done on humans or not, cannot find any supporting evidence...hopefully someone more knowledgeable than I will have a more definitive answer. If for some strange reason, you think I could help out more, don't hesitate to email me. I'll do my darnest. Janice

what is sma(spinal muscular atrophy)? by mohamad e Q:

A: What is Spinal Muscular Atrophy? Spinal muscular atrophy (SMA) is a genetic, motor neuron disease caused by progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of the voluntary muscles. Weakness is often more severe in the legs than in the arms. The childhood SMAs are all autosomal recessive diseases. This means that they run in families and more than one case is likely to occur in siblings or cousins of the same generation. Parents usually have no symptoms, but still carry the gene. The gene for SMA has been identified and accurate diagnostic tests exist. There are many types of SMA; some of the more common types are described below. SMA type I, also called Werdnig-Hoffmann disease, is evident before birth or within the first few months of life. There may be a reduction in fetal movement in the final months of pregnancy. Symptoms include floppiness of the limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Affected children never sit or stand and usually die before the age of 2. Symptoms of SMA type II usually begin between 3 and 15 months of age. Children may have respiratory problems, floppy limbs, decreased or absent deep tendon reflexes, and twitching of arm, leg, or tongue muscles. These children may learn to sit but will never be able to stand or walk. Life expectancy varies. Symptoms of SMA type III (Kugelberg-Welander disease) appear between 2 and 17 years of age, and include abnormal manner of walking; difficulty running, climbing steps, or rising from a chair; and slight tremor of the fingers. Kennedy syndrome or progressive spinobulbar muscular atrophy may occur between 15 and 60 years of age. Features of this type may include weakness of muscles in the tongue and face, difficulty swallowing, speech impairment, and excessive development of the mammary glands in males. The course of the disorder is usually slowly progressive. Kennedy syndrome is an X-linked recessive disorder, which means that women carry the gene, but the disorder only occurs in men. Congenital SMA with arthrogryposis (persistent contracture of joints with fixed abnormal posture of the limb) is a rare disorder. Manifestations include severe contractures, curvature of the spine, chest deformity, respiratory problems, an unusually small jaw, and drooping upper eyelids. Is there any treatment? Treatment of all forms of SMA is symptomatic and supportive and includes treating pneumonia, curvature of the spine, and respiratory infections, if present. In addition, physical therapy, orthotic supports, and rehabilitation are useful. Genetic counseling is imperative. What is the prognosis? The prognosis for individuals with SMA varies depending on the type of SMA and the degree of respiratory function. The patient's condition tends to deteriorate over time, depending on the severity of the symptoms. What research is being done? The NINDS supports research to study gene function in SMA. Researchers have found the specific gene that, when mutated, causes SMA. Several animal models of the disease have been developed as well as tests that can determine SMA gene function. This allows scientists to screen drugs that may be useful in treating SMA. The NINDS has established a model translational research program to accelerate the process of developing a safe and effective treatment for SMA. More information about this program is available at http://www.smaproject.org/. Select this link to view a list of studies currently seeking patients. Organizations FightSMA/Andrew's Buddies 1807 Libbie Avenue Suite 104 Richmond, VA 23226 [email protected] http://www.fightsma.org Tel: 804-515-0080 Fax: 804-515-0081 Families of Spinal Muscular Atrophy P.O. Box 196 Libertyville, IL 60048-0196 [email protected] http://www.curesma.org Tel: 847-367-7620 800-886-1762 Fax: 847-367-7623 Spinal Muscular Atrophy Foundation 119 West 72nd Street Suite 187 New York, NY 10023 [email protected] http://www.smafoundation.org Tel: 877-FUND-SMA (877-386-3762) 646-253-7101 Fax: 212-247-3079 March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 [email protected] http://www.marchofdimes.com Tel: 914-428-7100 888-MODIMES (663-4637) Fax: 914-428-8203 Muscular Dystrophy Association 3300 East Sunrise Drive Tucson, AZ 85718-3208 [email protected] http://www.mda.org Tel: 520-529-2000 800-344-4863 Fax: 520-529-5300 Kennedy's Disease Association P.O. Box 1105 Coarsegold, CA 93614-1105 [email protected] http://www.kennedysdisease.org Tel: 559-658-5950

anyone kno anything about spinal muscular atrophy????? by martinez Q: i juss wanted to kno if u have SMA wat r the risks of having a child i really need to kno this info if u can plzz help me out i would greatly appreciate it thank u so so much. p.s its type 2

A: This would depend on family history and ethnicity of person you are having a child with. If you are considering pregnancy and have SMA, I recommend that you request referral to a genetic counselor for a preconception counseling visit to discuss risks associated with your condition and pregnancy.

Spinal Muscular Atrophy (SMA)? by OMG Q: can you please explain: how the gentic defect occurs. i know that it is an autosomal ressisive but i dont know what that means. it says in wikipedia: that it means that we have a defect in both genes in both chromosomes? do they mean mom chromosom and dad's the chromosome that is composed of two chromatids( one from mom and the other form dad? is that it? plz i need ya'r help..

A: http://en.wikipedia.org/wiki/Image:Autorecessive.jpg http://www.healthcentral.com/ency/408/002052.html Genetics are complicated. But if two parents both carry a recessive gene. You would get : 1/4 chance the child is normal 2/4 chance the child is a carrier-has the recessive gene 1/4 chance the child has the trait or the disease There are many recessive traits and diseases-blue eyes, muscular dystrophy's and many more. There is genetic counseling if you are concerned about having a child with SMA. http://www.fsma.org/FSMACommunity/understandingsma/ http://www.smafoundation.org/ http://www.fightsma.org/index.php?what_is_sma There are 3 child type of SMA and one adult onset. I have treated children with all three types as a physical therapist. Please give some more information so I can give you more of an answer.

My nephew has spinal muscular atrophy...? by chelexhay Q: Does anyone know a good place with trained medical dogs that will alert to his conditions troubles? Thank you so much!

A: Check out this website http://www.caninesforkids.org/

Do people who suffer from Spinal Muscular Atrophy tend to get depression?. .? by Q:

A: Anyone with a chronic medical problem is likely to suffer depression. Medical problems are depressing. The problem comes when the original medical problem is misdiagnosed as depression, or the doctor imagines that the medical problem is caused by the depression, and not the other way around.

Spinal Muscular Atrophy Type 1? by Jamie's Mommy Q: Can someone give me any information on this? What causes it, treatments, (is it always fatal?) really just anything you know? A (ex) friend from high school's daughter just died from it, and I've never heard of it. She was only about 6 months old.

A: I've found this for you on wikipedia http://en.wikipedia.org/wiki/Spinal_muscular_atrophy It would seem that it's always fatal, and the sooner the symptoms show up, the earlier the patient will die. It is genetic, and has to do with chromosone 5, which contains the survival neutron gene. There's a whole explanation for it on wikepedia. SMA type I (what your friend's baby had), also known as severe infantile SMA or Werdnig Hoffmann disease, is the most severe, and manifests in the first year of life. This type generally onsets quickly and unexpectedly after birth; babies diagnosed with Type I SMA do not generally live past one year of age. Pneumonia is considered the ultimate cause of death due to deterioration of survival motor neurons; motor neuron death causes insufficient functioning of the major bodily organ systems, particularly respiratory (e.g. breathing, ridding of pooled secretions inside lungs). -------------------------- I'm sorry for your friend's loss.

Spinal Muscular Atrophy support groups? by Q: I lost my little girl May 4th to SMA and I am looking for some kind of support groups where I can talk to other parents who have been through this or are currently going through this. Does anyone know where I can find one?

do people with spinal muscular atrophy live as long as someone without? by Jessica B Q: or do they tend to die at a younger age?

A: I think that there are some different types of SMA -- like type I, II, III. . . For sure, folks with type I and usually type II, I think, will experience respiratory weakness fairly early in life. www.oursmaangels.com says that SMA is the #1 genetic killer of children under 2. So I guess the answer is no, the vast majority of people with SMA don't have a typical life expectancy.

A friend's child has been diagnosed with SMA (spinal muscular atrophy). Is this a mitochondrial disease? by WorriedGirlWondering Q:

A: Spinal Muscular Atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy (wasting away) and weakness.

Is my friend going to die? (Spinal Muscular Atrophy)? by Q: I have a friend who just turned 18, and he has something called Type I Spinal Muscular Atrophy. It's like muscular distrophy at a severe level - he's in a wheelchair because his muscles aren't strong enough to support his weight, and he is hospitalized several times a year with lung infections. He stopped going to public school last fall, and I rarely see him anymore. He was in the hospital for months with severe pneumonia. He's out of the hospital now, but his dad says he's too sick to talk on the phone when I call. I went to visit, but I didn't get to see him, and his dad said something about carrying pathogens. I'm talking to him on Skype (by typing) and he's just acting like nothing's wrong. Does this mean he's going to die? I'm getting really worried.

A: Eventually the muscles involved in breathing weaken so that the afflicted person gets more and more pneumonias. Also, the cardiac muscle weakens to the point that it cannot sustain circulation. No one can predict the length of life for your friend, but he has reached a critical time, and death may be close at hand. Very sorry, but it's a terrible disease. Docs don't like to feel helpless, but teens with SMA often give us that feeling.

I have spinal muscular atrophy, and I'm wondering if I can get an online job without my GED? by David H Q: Hello I'm 17, and I'll be 18 Nov. 12th 2008. I have a rare disorder called spinal muscular atrophy, and I'm wheel-chair bound. It doesn't effect my brain. I've actually took and finished a class in high school on HTML and aced it. I stay online 6-8 hours a day. I'm wondering since my disorder has caused me to not get my GED at the age of 18 from sicknesses ETC, if I can become a Web Designer or get a job online to better use my 6-8 hours a day. Thanks

A: some companies let you do tech support from home. (with a VPN connection, and VOIP phone) teach yourself to program PHP & Javascript, and you just might be able to make a living off webdesign/development. i have a laptop from the boss and only show up at the office once per 2 weeks and i'm able-bodied without an excuse. (i program) No doubt the rigth boss will arrange teh same for you, if you are good enough. (make sure you are) as for learning to make websites (using php, and maybe even mysql) this website ( http://www.w3schools.com/ ) is now your new God.

Spinal muscular atrophy? by Q: Are there any treatments for young adults with spinal muscular atrophy?

A: There are no approved treatments for the condition itself. The treatments have been focused on alleviating problems caused by SMA. Clinical trials are open for some experimental treatments.

Has any one tried alternative treatment methods for spinal muscular atrophy? by ali riza n Q: spinal muscular atrophy is a lethal children's disease

A: I believe that is much too risky to attempt untried manipulations on.

spinal muscular atrophy? by Audrey H Q: I am definitely not asking for medical advice just some naturally suggestion. Do anyone know of any natural food or vitamins that you can take to help redevelop your muscle if you have spinal muscular atrophy and it is not the same as taking proteins because although it is call spinal muscular atrophy it is the wasting of the nerve of the muscle and if anyone out there know of any type of natural remedy I sure would really appreciate your help. They keep saying they are looking for a cure but it is taking they a little too long. Please Help

A: Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in your spinal cord. These neurons communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As you lose the neurons, your muscles weaken. This can affect walking, crawling, breathing, swallowing and head and neck control. SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family. There are many types of SMA, and some of them are fatal. Life expectancy depends on the type you have and how it affects your breathing. There is no cure. Medicines and physical therapy help treat symptoms.

does anyone know any intresting facts about spinal muscular atrophy? by Tina T Q:

A: Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. hope my info helps

how does pregnancy affect someone with spinal muscular atrophy? by kim f Q:

A: More stress on the lower back . It will be a "long " pregnancy . Your doctor will probably give you several epidural injections . Don't worry , the baby won't be harmed ..

Does spinal muscular atrophy affect the Central Nervous System? by ...jerchel_ko.... Q: please answer this!

A: Yes, but the effect is indirect. Those atrophied muscles won't be able to hold the spine properly which, if severe, may result to its collapse resulting to spinal cord compression and injury.

How long can a child live with type one SMA (Spinal Muscular Atrophy)? by Q:

A: SMA is a genetic disease characterized by progressive muscle weakening and loss. Because the muscles controlling breathing are affected by the disease, SMA can cause premature death. Life expectancy of SMA tends to vary by SMA type, which is generally associated with age of onset of symptoms. Children diagnosed with SMA Type I may survive for up to two years or longer, depending on their individual strength. Children with moderate to mild forms of SMA (SMA Types II and III) generally live into adulthood and could have normal life expectancy. Good multidisciplinary care, including physical therapy, occupational therapy, respiratory therapy, and nutritional support, can improve quality and length of life for people with SMA and is recommended. Planning for medical emergencies is also strongly suggested. Tin

Why is Spinal Bulbar Muscular Atrophy nicknamed Kennedy's disease? by ash Q: I am having to do a Biology research project on Kennedy's disease, Spinal Bulbar Muscular Atrophy. I was wondering why SBMA was given the nickname Kennedy's disease. Any information relating to this mystery would be so helpful! thanks! Nevermind. I found the answer I was looking for. But if you know any interesting facts about this disease please share!

A: Dr. William Kennedy is now retired, but still interested in spinal bulbar muscular atrophy (SBMA). Last winter, he wrote the Kennedy's Disease Association and commented, " "I am amazed at the wonderful support that the KDA gives to the men and families affected by KD. The progress made by current research on animal models of KD and by therapeutic trials gives reason to hope that the disease that I described 40 years ago will finally be conquered." Many people are still misdiagnosed today (most often as ALS). This link talks a little about that: http://kennedysdisease.blogspot.com/2009/11/misdiagnosis-it-is-still-problem.html The genetics side of KD is interesting. In this link I try to explain it further: http://kennedysdisease.blogspot.com/2010/01/genetic-counseling-helps-to-answer-many.html IGF-1 is a pretty exciting potential treatment for KD. If the next round of testing goes well, we could have a clinical trial by the end of the year. These two links explains it further: http://kennedysdisease.blogspot.com/2010/01/delaying-motor-neurone-disease.html http://kennedysdisease.blogspot.com/2009/12/research-news.html This is an interesting story about the need for educating care givers: http://kennedysdisease.blogspot.com/2009/09/education-and-awareness.html There is quite a bit of information on the KDA web site. I hope this helps.

How close are scientists to finding a cure for SMA? (Spinal Muscular Atrophy?)? by Samantha Q: And how close are we to having a cure available, that is, after experimentation and stuff.

A: well, there is a few potential treatments in the works.. without going into details, id say, at the minimum, 2 - 3 years, after clinical trials and stuff, if all successful

What is the average life span for people with Spinal Muscular Atrophy Type 2? by emily j Q:

A: in the 20's

I'm physically disabled(Spinal muscular atrophy) but I'm feeling down. Confidence tips? by Tasteforsuicidal. Q: I'm female, 15. I have a life long condition called Spinal muscular atrophy and suffer from slight scoliosis (spine curveture). I'm a rock/punk/emo I have fashionable hair and clothes but when I look in the mirror I feel like crying and just down. I've never had a boyfriend or anything remotely close. I think I need confidence tips or summat before I try boys? Thanks in advance x

A: I hope it doesn't sound like I'm offering cliques but here goes.... It is all about attitude, we live in a world that sets standards of physical beauty that is quite unrealistic for most of us. Keep the input positive by hanging around good friends, don't "try" boys, when you build your confidence they will be attracted to you. Looks are important to us so when you look in the mirror and you are feeling low, just pick one thing you are really happy with and focus on that, do you have beautiful eyes, is your skin clear etc....? Be involved and proud! Challenge yourself by believing you are beautiful and anyone who doesn't think so has the problem...not you. It is true that when you have an inner strength a lot of other things do not seem so important...believe. Build that confidence from the inside out.

Is it possible for a newborn to be diagnosed with Spinal Muscular Atrophy? by Melanie Q: Is it possible for a newborn to be diagnosed with Spinal Muscular Atrophy if there was never any family history of SMA? The parents do not even carry recessive genes of SMA. I've researched SMA and I've read that it can only be inherited.

A: Usually nobody in the family even knows that they carry the gene. The way the check is through a blood test and what they are checking for is if the child is missing the Survival Motor Neuron. My precious baby boy had Spinal Muscular Atrophy and I can tell you we had no family histroy of it either. If somebody you know has it or you think might have it I promise I'll keep them in our prayers. God Bless

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