Talk:Spinal muscular atrophies

From Wikipedia, the free encyclopedia
Jump to: navigation, search
WikiProject Medicine / Medical genetics (Rated Start-class, Mid-importance)
WikiProject icon This article is within the scope of WikiProject Medicine, which recommends that medicine-related articles follow the Manual of Style for medicine-related articles and that biomedical information in any article use high-quality medical sources. Please visit the project page for details or ask questions at Wikipedia talk:WikiProject Medicine.
Start-Class article Start  This article has been rated as Start-Class on the project's quality scale.
 Mid  This article has been rated as Mid-importance on the project's importance scale.
Taskforce icon
This article is supported by the Medical genetics task force.
edit·history·watch·refresh Stock post message.svg To-do list for Spinal muscular atrophies:

To-do list is empty: remove {{To do}} tag or click on edit to add an item.

Priority list

Baby MB[edit]

This section seems almost out-of-place. There's no background or description of who "Baby MB" is and what he was suffering from; it doesn't even mention where in the world this occurred. - 07:58, 14 December 2006 (UTC)

Inheritance Pattern[edit]

What is the inheritance pattern? Perhaps that should be in the first paragraph. 19:01, 10 January 2007 (UTC)

missing link to german Wikipedia[edit]


doi:10.1016/S0140-6736(08)60921-6 - Lancet review. JFW | T@lk 21:29, 27 August 2008 (UTC)

hey experts[edit]

is that list under the symptoms heading symptoms for the infantile form? is that form more common? I'm gonna make an edit. correct it if it's wrong. my goal is greater clarity for those who are not familiar with the medical language typically used to describe --- medical--- conditions. yeah. Headlikeawhole (talk) 17:11, 13 December 2008 (UTC)

Be bold. --PaulWicks (talk) 02:57, 14 December 2008 (UTC)

Adults with SMA section[edit]

I'm slightly concerned at the proliferation in references to individuals currently living with SMA with associated links to their websites and blogs. I'm not trying to suppress their right to expression or to be counted, far from it, but it looks like something that isn't really appropriate for an encyclopedia... any comment?--PaulWicks (talk) 12:54, 2 March 2009 (UTC)

I feel the same way. Fuzbaby (talk) 20:01, 5 June 2009 (UTC)

Text in external links section[edit]


There seems be a profound misunderstanding about what should be in the external links section. For what this is supposed to look like, I suggest reviewing the Main Page article, and WP:EL and WP:GTL guidelines.

So I removed the absolutely inappropriate text (see also WP:NOT), which is below. I personally don't think any of this should go back into the article, but other editors may feel differently; if so, there absolutely needs to be a reliable source cited - and (please read the guideline) the website of an organization does not meet Wikipedia's definition of a "reliable source".

Finally, I think that many of the links now in the EL section should be removed. Per WP:NOT, Wikipedia isn't a directory, and so articles like this shouldn't just list every organization that is dedicated to fighting a particular disease. But I'll leave it to other editors to decide which links to organizations, if any, should remain. -- John Broughton (♫♫) 18:13, 24 January 2010 (UTC)

Extended content

Removed content (except links)[edit]

Prevent SMA is the only organization that focuses on carrier screening for Spinal Muscular Atrophy. The Claire Altman Heine Foundation is dedicated to identifying carriers of SMA and making carrier screening a standard of care. More information can be found at

The Ally Cadence Trust for Spinal Muscular Atrophy[edit]

The Ally Cadence Trust is a non profit organisation in the UK, which provides both emotional and financial support to families affected by Spinal Muscular Atrophy. ACT for SMA also donate money to reseach into finding a cure for Spinal Muscular Atrophy. We achieved charity status in December 2009 and our UK Registered Charity Number is 1133272. We have many items of equipment and monitors ready to loan out to families upon diagnosis and offer 24 hour support.

Help for today, Hope for tomorrow[edit]

The Gwendolyn Strong Foundation a non-profit organization dedicated to raising awareness and funding research for SMA is in the running to win 1 MILLION DOLLARS from Chase Financial. Link to Vote:

The Jennifer Trust for Spinal Muscular Atrophy support people affected by SMA, and invest in essential research into causes, treatments and eventually a cure for the condition.

For the last 24 years The Jennifer Trust has provided support for families and individuals affected by Spinal Muscular Atrophy, an inherited muscle wasting condition.SMA does not cause cognitive or intellectual impairment, and children who have the condition are very aware of their situation. Like their peers, they want to go places, have fun, a social life, maybe go to college, as well as manage their condition as effectively as possible. We help them to do this, as well as helping parents with severely ill babies to give them the best possible care.

Families of Spinal Muscular Atrophy,, is dedicated to creating a treatment and cure by: Funding and advancing a comprehensive research program; Supporting SMA families through networking, information and services; Improving care for all SMA patients; Educating health professionals and the public about SMA; Enlisting government support for SMA; Embracing all touched by SMA in a caring community. Our vision is a world where Spinal Muscular Atrophy is treatable and curable. Families of SMA has created hope for the community that did not exist in 1984. FSMA has raised and funded over $50 million for SMA research. Support comes from generous individual donations and numerous fundraising events held by volunteer families and Chapters. Families of SMA funds and directs the leading SMA research programs. The successful results and progress from basic research to drug discovery programs to clinical trials provides real hope for families and patients FSMA is a non-profit, 501(c)3 tax exempt organization, with 27 Chapters throughout the United States and over 65,000 members and supporters. FSMA is a collaborative organization where families and friends and researchers are all working together towards the same goal.

Fight SMA,, is an international nonprofit organization dedicated to finding a treatment or cure for spinal muscular atrophy. Their website includes the web's leading SMA blog, the Spinal Muscular Atrophy Guidebook, and Fighting Back Podcast. Founded in 1991 by the parents of a child with SMA, the organization is made up of 19 chapters across the U.S. and Canada, and sponsors an annual conference in Washington D.C. that allows SMA families to receive updates on the disease and meet leading researchers.

Bipap for SMA,, is a resource for Parents and Carers trying to find Bipap and Cpap masks to fit small infants and children with Spinal Muscular Atrophy (type 1) and other conditions where Bipap is deemed appropriate. Very few masks are available for infants and this site aims to build a knowledge resource and has some other tips and tricks for the care of SMA infants.

"it is often observed that patients with SMA are unusually bright and sociable"[edit]

The reference cited doesn't actually mention the intelligence of disposition of patients with SMA. Also, the statement is ambiguous. Are the patients unusually bright and sociable relative to the normal population, or is this deemed unusual relative to those with similar levels of impairment due to other conditions? Should this statement be removed? (talk) 09:15, 19 July 2010 (UTC)

Articles on spinal muscular atrophies - cleanup required[edit]

I am sorry to notice the whole scope of spinal muscular atrophies is presented on Wikipedia in an extremely clumsy way. True, part of the blame rests with ICD-10 which does not properly differentiate conditions causes by mutations of different genes (see below or in the main article).

These separate and different conditions have different underlying causes on the genetic level; vastly different symptoms; and, consequently, varying therapies and prognoses.

Further confusion is caused by the fact that the term spinal muscular atrophy technically relates to the most common condition - autosomal recessive proximal spinal muscular atrophy caused by the deletion of exon 7 of the SMN1 gene (chromosome 5q13) which is sometimes further differentiated into SMA types 0 through 4 (incl. the Werdnig-Hoffman syndrome, or SMA 1, and Kugelberg-Welander disease, or SMA 3). Other muscular atrophies are normally not referred to in medical literature as "spinal muscular atrophies" but rather by their full/expanded names (e.g.,spinal and bulbar muscular atrophy, spinal muscular atrophy with respiratory distress, etc.).

The current structure of Wikipedia articles does not fully reflect it, having grouped all of these different diseases under "spinal muscular atrophy". Consequently, a person trying to learn on, say, what is commonly called "spinal muscular atrophy" (as I did a year ago) will face a confusing task of navigating between mutually exclusive information and unclear nomenclature, and lacking of clarity as to which article refers to the disease information about which he/she is seeking.

Herein, I would like to propose restructuring the whole scope of spinal muscular atrophies - the proposed structure could consist of:

1. A generic article Spinal muscular atrophies that describes the common elements (mainly symptoms) of the individual diseases;
2. A disambiguation article Spinal muscular atrophy (disambiguation) which contains links to the individual diseases:
3. A set of articles on the individual diseases, as they are currently written. Following the nomenclature clean-up, article titles should reflect the most common names of the respective conditions as used in specialist literature (as above list).

When referring to "specialist literature" I mean medical research articles available through PubMed and PubGet search engines.

I would like to invite all interested to the discussion. If no objection is made within 2 weeks, I will begin moving and cleaning up the articles.

kashmiri (talk) 22:32, 20 November 2011 (UTC)

Mosty done[edit]

Mostly done. Now, those parts of this article that deal with the spinal muscular atrophy (i.e., the SMN1 deletion related condition) need to be merged with the main Spinal muscular atrophy article (the one that was earlier titled oddly "Survival motor neuron spinal muscular atrophy" and now has been correctly renamed). All help in merging appreciated. Thanks to follow Wikipedia:Merging guidelines. kashmiri (talk) 00:39, 18 December 2011 (UTC)