Talk:Spinal and bulbar muscular atrophy/Archive 1

note

I am happy to see Kennedy's Disease added to Wikipedia. It is a relatively unknown disease that impacts many throughout the world. It is an X-linked disease and is passed from the mother to some of her children. There is currently no treatment or cure. The Kennedy's Disease Association (http://www.kennedysdisease.org/index.html) was created to educate others on this disease and help find a treatment or cure. The KDA has over 700 associates in their database of which most have KD.

I hope this discussion format provides another vehicle to express concerns, find out additional information about KD, and open more doors. —Preceding unsigned comment added by BruceG (talk • contribs)

Kennedy Disease Genetic track

When looking at the genetic path of the disease, I am confused as to how many generations the disease can be passed on. If a man inherits the disease from his carrier mother and has daughters, can that daughter be a carrier that is able to pass it on to her sons? I know of a family where three of four brothers have Kennedy disease. Will the three brothers be able to pass it on to their daughters. Will their sons be immune to the disease end the genetic line of the disease? If the one brother who did not get the disease could he have a carrier daughter and will his sons be free of the disease and the genetic path will end with that generation?216.51.168.209 (talk) 14:06, 19 October 2008 (UTC)[reply]

Disambiguation

I've no idea how, but would it be worth sticking in a disambiguation page so that SBMA doesn't redirect you straight to an article a municiple authority in the philippines? 91.106.5.93 (talk) 12:48, 16 October 2009 (UTC)[reply]

A search for Kennedy's syndrome redirects to this page, though the two are very different (Kennedy's syndrome is actually Foster-Kennedy syndrome, and has an entry of it's own) —Preceding unsigned comment added by Eldorrogev (talk • contribs) 09:48, 10 April 2010 (UTC)[reply]

Resolved. kashmiri (talk) 14:51, 20 December 2011 (UTC)[reply]

Kennedy's disease or spinal and bulbar muscular atrophy?

Both names are used in medical literature, with Kennedy's disease sounding a bit more vernacular. A quick search of pubmed has returned: 537 results for spinal and bulbar muscular atrophy and 180 results for Kennedy's disease. A search of pubget has returned respectively 343 and 240 results.

Spinal and bulbar muscular atrophy can be thus considered the technical name of the disease.

Hence, I propose to rename this article to spinal and bulbar muscular atrophy, with a redirect set for Kennedy's disease.

kashmiri (talk) 14:45, 20 December 2011 (UTC)[reply]

I disagree. While it is not an urgent thing or, in fact, material whether the "main article" is titled Kennedy's Disease or "spinal and bulbar muscular atrophy" / SBMA, there is a reason it has become known as Kennedy's disease. For those directly involved in the field -- including clinical neurologists, researchers and patients -- both names are used and it's either / or with no ambiguity at all. "Kennedy's disease" is instantly recognizable and very specific. We do not go to Wiki as a source of information on the disease. But for the typical pedestrian Wiki reader Kennedy's disease would be less ambiguous since there are other diseases, e.g., spinal muscle atrophy (a.k.a. SMA types 1-3) that are already confused with KD in the lay literature but are truly unrelated to KD/SBMA. It is called Kennedy disease because that is how it has become known, being named after WR Kennedy's initial reported clinical study, reported in 1993 [Kennedy, William R., Milton Alter and Joo Ho Sung. 1968. Progressive proximal spinal and bulbar muscular atrophy of late onset. Neurology 18: 671-680]. I also find it curious that the authors of this sort of very specific medical/technical article are debating on what the disease should be called. If you decide to change the name to SBMA it is technically correct. But you then must go through a long list of other wiki articles on medical conditions and change all to use the technical names. For example

- Parkinson’s disease “...in 1917, an English doctor, James Parkinson, published his essay reporting six case of paralysis agitans...”

- Hodgkins’s disease “...Hodgkin's lymphoma was first described in an 1832 report by Thomas Hodgkin ...”

- Amyotrophic lateral sclerosis (ALS), is NOT KNOWN as “Waller – Charcot disease” even though in 1850 ...English scientist Augustus Waller first described the appearance of shriveled nerve fibers and French doctor Jean-Martin Charcot first described ALS symptoms in autopsy patients in 1869. (Charcot) published a paper in 1874 describing the disease whose title is the first formal use of the term ALS (...(d)e la sclérose latérale amyotrophique - "Amyotrophic Lateral Sclerosis"). In the U.S. at least, the disease familiarly became known cause célèbre as “Lou Gehrig’s disease” when in 1939 baseball legend Lou Gehrig's famously retired from baseball in his July 4, 1939 speech to a packed Yankee stadium crowd, and died two years later.

- Charcot-Marie-Tooth disease “...is named after the physicians and researchers who initially described it, i.e. Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940) "...Sur une forme particulière d'atrophie musculaire progressive, souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains" [Revue médicale (Paris) 6: 97–138. 1886], and Howard Henry Tooth (1856–1925) ("The peroneal type of progressive muscular atrophy", dissertation, London, 1886.)

- Huntington’s disease “…The first thorough description of the disease was by George Huntington in 1872. Examining the combined medical history of several generations of a family exhibiting similar symptoms, he realized their conditions must be linked…”

- Guillain-Barré Syndrome “…(i)n 1916, Georges Guillain, Jean Alexandre Barré, and André Strohl diagnosed two soldiers with the illness and described the key diagnostic abnormality of increased spinal-fluid protein production, but normal cell count …”

- Creutzfeldt-Jakob Disease “The disease was first described by German neurologist Hans Gerhard Creutzfeldt in 1920 and shortly afterward by Alfons Maria Jakob…” and was thereafter referred to as Creutfeldt-Jakob disease.

Separately, the article says that Kennedy’s disease is sometimes called X linked SMA-1. This statement is wrong. XL-SMA is a separate and distinct disease with different etiology. The etiology of Kennedy’s disease is well defined in Spada, A. R. L.,. E.M. Wilson, D.B. Lubahn, A.E. Harding, and K.H. Fischbeck. 1991. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 (6330): 77–79, i.e., “…increased polymorphic tandem CAG repeat in the coding region of the androgen receptor gene, Xq11,12. KD/SBMA is generally found to be CAG repeat length dependent and age dependent (onset generally, but not always, increasingly pronounced starting in the fifth and sixth decades).

X linked infantile spinal muscular atrophy XL-SMA is characterized by congenital hypotonia and areflexia an evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Life span is shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement. Diagnosis of XL-SMA is based on clinical findings – evidence of degeneration and loss of anterior horn cells (lower motor neurons) in the spinal cord; normal SMN1 molecular genetic testing; and family history consistent with X-linked inheritance. UBA1 is the only gene currently known to be associated with XL-SMA. Carrier females have a 50% chance of transmitting the disease-causing mutation with each pregnancy. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will usually not be affected. Affected males do not reproduce. Carrier testing for family members at risk and prenatal testing for at-risk pregnancies are available if the UBA1 mutation has been identified in the family. http://www.ncbi.nlm.nih.gov/books/NBK2594/

Danleywolfe (talk) 18:02, 27 November 2014 (UTC)[reply]

@Danleywolfe: Sorry you seem to be confusing different X-linked disorders. The X-linked SMA associated with UBA1 is called X-linked spinal muscular atrophy type 2 (SMAX2) or arthrogryposis multiplex congenita – X-linked type 1 (AMCX1). This article is about SMAX1, or SBMA. OMIM is a good place to look as it keeps things up to date. Besides, if you need a MEDRS for SBMA being called XL-SMA, see here [1].

I am not sure about your suggestion of replacing spinal and bulbar muscular atrophy with Kennedy's disease. We need to use WP:COMMONNAME. Google results are similar for both terms, but PubMed lists 396 publications with "spinal and bulbar muscular atrophy" in title [2] against only 192 for "Kennedy's disease" in title [3]. Additionally, there are 101 results for "spinobulbar muscular atrophy" and 48 for "bulbospinal muscular atrophy". Considering both terms equal, I am tempted to leave it the way it is.

By the way, would you be able to WP:INDENT replies in the discussion? Thanks! kashmiri ^TALK 02:18, 24 October 2015 (UTC)[reply]

Substantial revision of SBMA page

The current article has a C quality rating and has multiple issues.

Poor organization -- some major heading cover major sections, other major headings cover only one sentence.
Some of the information on the page is not accurate. (Babinski response, diagnositic method)
Major focus on clinical trials that were not successful.
Limited description of natural history of SBMA or symptoms of concern to SBMA patients.

I am starting on a long-term effort to improve the quality of this page and will be encouraging others with an interest in SBMA to also contribute.

Rcborden2 (talk) 23:10, 27 December 2022 (UTC)[reply]

yes it does have some issues--Ozzie10aaaa (talk) 00:42, 28 December 2022 (UTC)[reply]