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Analysis of inconsistencies in terminology of spinal and bulbar muscular atrophy and its effect on retrieval of research.


Diseases are sometimes known by many names [1-9], which complicates the retrieval of publications. Rare and emerging diseases may be especially vulnerable to this. Health sciences librarians do not often encounter rare diseases and may be unaware of the search challenges that these diseases present. To effectively retrieve publications for research, a strategy to identify all the different names of a disease is needed so that these can be incorporated into a comprehensive search. The author was engaged in a research project to create a comprehensive bibliography of the rare disease spinal and bulbar muscular atrophy (SBMA). The project utilized a strategy to identify all of the various names for the disease. This strategy should be helpful not only for SBMA researchers, but for anyone interested in a methodology for obtaining a comprehensive list of names for a disease.

Spinal and bulbar muscular atrophy (SBMA)

SBMA (ORPHA481, OMIM #313200, SNOMED CT Concept ID 230253001 ([dagger])) is a rare progressive neuromuscular disorder of males marked by proximal muscle weakness, cramping, fasciculations (twitching of individual muscle fibers), and muscle atrophy. Symptoms have been reported to first begin to develop between the third to sixth decades of life. Prevalence of SBMA has been reported alternately as 1 in 40,000 [10], 1-2 in 100,000 [11], and less than 1 in 50,000 live male births [12], but it is thought to be underdiagnosed [13-15]. Degeneration of anterior horn cells (lower motor neurons) in the spinal cord of affected individuals is observed. Additional symptoms may include gynecomastia (abnormal growth of breasts in males), testicular atrophy, dysarthria (difficulty speaking), and dysphagia (difficulty swallowing). At this time, there is no known cure for most such neuromuscular diseases [16].

Inheritance of SBMA is by traditional X-linked genetics. The disorder is related to a genetic defect in which a trinucleotide repeat occurs in the first exon of the androgen receptor gene on the X chromosome, first identified by La Spada in 1991 [17]. The string of three nucleotides of a trinucleotide repeat is present in a normal gene but is an unusually long string in a defective gene. The trinucleotide repeat of SBMA is cytosine-adenine-guanine (CAG), which codes for the amino acid glutamine. The presence of the repeat in DNA translation results in a string of glutamine molecules in the resulting peptide. Normal CAG repeat length in the androgen receptor gene is 11-34. SBMA is diagnosed if the number of CAG repeats exceeds 38 [18, 19].

Women do not develop SBMA, but heterozygous and homozygous women may exhibit mild symptoms, particularly muscle twitching and cramping [13, 20, 21].

SBMA was identified as a unique disorder in 1968 by William R. Kennedy, but the disorder existed before its discovery [22]. As far back as 1897, Japanese neurologist Hiroshi Kawahara first described what appeared to be SBMA in two brothers suffering from muscle atrophy and fasciculation of the tongue and limbs, with adult onset and sex-linked recessive inheritance [23, 24].

Several disorders of varying severity and outcomes resemble SBMA, and the disorder is thought to be frequently misdiagnosed [25-29]. The most well known is amyotrophic lateral sclerosis. The most challenging are the spinal muscular atrophies (SMA). However, SMA is an autosomal recessive genetic disease. Symptoms of most forms of SMA arise in childhood, but SMA3 is suggested to possibly first appear in adolescence or young adulthood. SMA4 symptoms may appear after age 30 [30].

Thesaurus and subject headings

Typically, problems resulting from inconsistent vocabulary can be overcome by using the thesaurus and subject heading searches available in a database. However, emerging diseases may not have a subject heading assigned yet, and rare diseases may not be common enough to be worthy of a unique subject heading. Presumably, subject headings are assigned using the most authoritative name in the estimation of database developers and, therefore, may reflect any existing confusion in name usage. The Medical Subject Headings (MeSH) term, "Bulbo-Spinal Atrophy, X-Linked," was assigned to SBMA only recently, in 2009. From 2000 to 2008, the MeSH term, "Muscular Atrophy, Spinal," was used, but when searched, it includes that entire class of neuromuscular disorders, not just SBMA. CINAHL has assigned the subject heading of "Bulbo-Spinal Atrophy, X-Linked" only since 2010. Prior to 2010, no specific subject heading was assigned. Databases do not typically re-index older references to reflect new subject headings so recent designations will not aid in retrieval of older literature.


Creating the comprehensive bibliography involved creating both a list of name variants and a list of references. The list of name variants and their frequency of occurrence was created in Microsoft Excel. The bibliography was created in EndNote bibliographic management software. The Groups feature in EndNote made it possible to organize and count references by the name variant used. A basic Group can be created by dragging and dropping records into it. A Smart Group automatically pulls in records based on a Boolean search created by the user. EndNote X5 added the ability to create From Groups, using Boolean logic to combine existing Groups into a new Group. Groups facilitated organizing references by name variant, discovering and marking new name variants, and counting records.

To develop a search strategy, the author first acquired a basic understanding of SBMA and similar diseases to exclude the latter from the bibliography. The author was initially given two synonyms for SBMA by a physician: Kennedy disease and X-linked bulbospinal neuronopathy. Because the disease was known to be genetic, OMIM #313200 was used to identify the key characteristics of the disease and for an initial set of references. References were entered into a library in the EndNote bibliographic management software. Key characteristics of SBMA were used to eliminate references for diseases that resembled SBMA.

Reference books on neurology, genetic diseases, and other relevant topics were checked for SBMA entries using the various names from the initial set of references. Google Preview books sometimes allowed the SBMA entry in the book to be viewed. These entries were also examined for name variants and references, and the references were added to EndNote.

All of the prominent health sciences databases available to the author were searched, including the EBSCOhost databases for MEDLINE, CINAHL, Biomedical Reference Collection: Basic, Health Business FullTEXT, and Health Source: Nursing/Academic Edition, and the additional Thomson Reuters databases for Web of Science and Biological Abstracts. Retrieved records were first evaluated for whether they addressed the correct disease and then examined for name variants. As additional names were revealed, the author incorporated them into the developing Boolean search. When full-text articles were obtained, the references of the article were examined for additional records and name variants. Retrieved records were imported into EndNote.

The author used a circular methodology to find name variants where the method and the results influenced each other. Known name variants were incorporated into the search to find more name variants, which were then also incorporated into the search. The author was concerned that this methodology might miss references in previously searched databases. Therefore, when the author assumed she had a reasonably comprehensive EndNote library, she set it aside and started over searching all databases and sources using the Boolean search developed thus far. In this manner, she re-retrieved records and found records that might have been overlooked at the beginning of the project.

EndNote Groups were created for each name variant. Each EndNote reference was examined and added to the appropriate Groups, which counted references. Summary data of different name variants and their frequency of occurrence were entered into an Excel spreadsheet.

Many decisions about data admissibility were necessary. Records were retained in the developing bibliography if the title or abstract included a noun phrase with the specific disorder SBMA as a referent. Because SBMA had no name prior to 1968, pre-1968 records were excluded despite the fact that some probable cases were cited in the literature. Duplicate records from different databases were retained if they used the same SBMA name variant but spelled it differently, because different spellings affected the population of records that could be retrieved in databases and EndNote. For example, some databases, Web of Science in particular, use hyphens in name variants, and some do not.


A comprehensive bibliography from 1968 to 2010 produced 788 records of 206 different noun phrases that constitute name variants of SBMA. This included 32 records (4.1%) that were duplicates due to spelling discrepancies between databases. Categories were not mutually exclusive; the same record might be counted in more than 1 category. Some records contained multiple name variants or acronyms to identify the disorder, and some name variant constituents included various adjectives or compound words attached to the basic noun phrase. MEDLINE retrieved 100 records with a bracketed title indicating they were translations of titles from foreign languages.

Individual name variant records

The most commonly used name variant of "spinal and bulbar muscular atrophy" constituted only 38.8% of the records (Table 1). When "spinal and bulbar muscular atrophy" and "spinal and bulbar muscularatrophy" records were combined, they totaled 40.4%. The 4 most common name variants combined constituted 69.7% of the total bibliography from 1968 to 2010. The 8 most common name variants combined constituted 83.0%. Three of the top 13 were variations of shorter noun phrases already in the list. (Online only Table 2 provides a complete list of all noun phrases.)

Kennedy family of name variants

Diseases are often named after their discoverers. All name variants that incorporated the name of "Kennedy" or another acknowledged discoverer constituted 38.5% of the records in the bibliography. No individual kennedy variant was used in more than 25.0% of the records.

Acronym variant records

Records using an acronym in the title or abstract to refer to the disorder totaled 45.4% of records in the bibliography. The most common acronym was SBMA, which constituted only 34.5% of all records in the bibliography and 76.0% of total records using any acronyms. Searches in science and health databases retrieved 26 false hits of alternative referents, usually for the acronyms SBMA and BSMA.

Name variant families

Specific root terms were observed to be used in almost every name variant of SBMA. The family groups were spinal/bulbar combination variants (81.1%), muscular atrophy variants (71.3%), kennedy variants (38.8%), neuronopathy/neuropathy variants (7.7%), and amyotrophy variants (2.8%). Individual records may occur in more than one variant family.


The rare disease SBMA displayed wide variation in naming, which would likely affect the success of any comprehensive search. Multiple name variants with inconsistent structures complicated the search strategy. Researchers creating a literature review for a specific SBMA research question would likely have difficulty locating all 206 name variants. A search for any single name variant would retrieve less than half of the published literature at best. A search that combined the 13 most common name variants would retrieve 88.5% of the known records (Table 1). All other name variants occurred rarely, individually constituting less than 2.0% of the comprehensive bibliography, but excluding them completely could miss publications of interest to determined researchers. Translations complicate retrieval as they were very likely to use a unique or unusual name variant for SBMA. A search for only kennedy variants would retrieve less than half of the published literature. The low percentage of acronyms as well as the high possibility of false hits makes searching by acronym minimally effective.

The author investigated which of the terms of "neuronopathy," "amyotrophy," or "muscular atrophy" were most frequently used in SBMA name variants. In addition, name variants incorporating the discoverer "Kennedy" and the commonly occurring combination of variations of "spinal" and "bulbar" were examined to learn their frequency of occurrence. The "spinal-bulbar combination" family (81.1%) and the "muscular atrophy" family (71.3%) are both more commonly used than the other families of terms.


This study illuminates the extent of the terminology problem for searches for literature relating to rare diseases. It is reasonable to assume that other rare and emerging disorders might have similar challenges resulting from terminology inconsistencies. Awareness of the challenge may help researchers avoid missing important studies.

Further monitoring of rare and emerging disease publications is recommended to track the magnitude of the impact of inconsistent naming on search success. Over time, trends in name usage may become apparent. Preferred name variants may also change over time. Future studies might explore the impact of key research laboratories on the development of rare disease terminology. It is a reasonable hypothesis that established researchers influence the terminology used by graduate students and research partners in their own studies.


Received June 2012; accepted November 2012


[1.] Caccetta TP, Dessauvagie B, McCallum D, Kumarasinghe SP. Multiple minute digitate hyperkeratosis: a proposed algorithm for the digitate keratoses. J Am Acad Dermatol. 2012 Jul; 67(1):e49-55.

[2.] Nayak NC, Jain D, Saigal S, Soin AS. Non-cirrhotic portal fibrosis: one disease with many names? an analysis from morphological study of native explant livers with end stage chronic liver disease. J Clin Pathol. 2011 Jul; 64(7):592-8.

[3.] Masaki Y, Kurose N, Umehara H. IgG4-related disease: a novel lymphoproliferative disorder discovered and established in Japan in the 21st century. J Clin Exp Hematop. 2011 May 31; 51(1):13-20.

[4.] Ismail FY, Kossoff EH. AERRPS, DESC, NORSE, FIRES: multi-labeling or distinct epileptic entities? Epilepsia. 2011 Oct 17; 52(11):e185-9.

[5.] Frydman A, Simonian K. Aggressive periodontitis: the historic quest for understanding. J Calif Dent Assoc. 2011 Jun; 39(6):377-82.

[6.] Ryan D. Cavernous malformations. J Neurosci Nurs. 2010 Oct; 42(5):294-9.

[7.] Cheng L, Foster SR, MacLennan GT, Lopez-Beltran A, Zhang S, Montironi R. Inflammatory myofibroblastic tumors of the genitourinary tract--single entity or continuum? J Urol. 2008 Oct; 180(4):1235-40.

[8.] Iqbal MB, Moon JC, Guttmann OP, Shanahan P, Goadsby PJ, Holdright DR. Stress, emotion and the heart: tako-tsubo cardiomyopathy. Postgrad Med J. 2006 Dec; 82(974):e29.

[9.] DiFurio MJ, Auerbach A, Kaplan KJ. Well-differentiated fetal adenocarcinoma: rare tumor in the pediatric population. Pediatr Dev Pathol. 2003 Nov-Dec; 6(6):564-7.

[10.] Greenland KJ, Zajac JD. Kennedy's disease: pathogenesis and clinical approaches. Intern Med J. 2004 May; 34(5):279-86.

[11.] Guidetti D, Sabadini R, Ferlini A, Torrente I. Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy. Eur J Epidemiol. 2001 Nov 5; 17(6):587-91.

[12.] Gallo JM, Leigh PN. Spinobulbar muscular atrophy [Kennedy's disease]. In: Andrew AE, Pamela JS, ed. Handbook of clinical neurology. Elsevier; 2007. p. 155-69.

[13.] Mariotti C, Castellotti B, Pareyson D, Testa D, Eoli M, Antozzi C, Silani V, Marconi R, Tezzon F, Siciliano G, Marchini C, Gellera C, Donato SD. Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. Neuromuscul Disord. 2000 Aug; 10(6):391-7.

[14.] Udd B, Juvonen V, Hakamies L, Nieminen A, Wallgren-Pettersson C, Cederquist K, Savontaus ML. High prevalence of Kennedy's disease in western Finland--is the syndrome underdiagnosed? Acta Neurol Scand. 1998 Aug; 98(2): 128-33.

[15.] Vandenberghe N, Bouhour F, Petiot P, Gonnaud PM, Latour P, Broussolle E, Vial C. [Multiple phenotypic manifestations of X-linked spinobulbar muscular atrophy]. Revue Neurologique. 2009 Jan; 165(1):31-7. French.

[16.] Strand EA. Kennedy disease/syndrome. In: McNeil MR, ed. Clinical management of sensorimotor speech disorders. New York, NY: Thieme; 2008. p. 334-6.

[17.] La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature [London]. 1991 Jul 4; 352(6330):77-9.

[18.] Kuhlenbaumer G, Kress W, Ringelstein EB, Stogbauer F. Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals. J Neurol. 2001 Jan; 248(1):23-6.

[19.] Wieacker PF, Behre HM, Nieschlag E. X-linked spinal and bulbar muscular atrophy [SBMA]. In Nieschlag E, Behre HM, Nieschlag S, ed. Andrology: male reproductive health and dysfunction. Berlin, Germany: Springer-Verlag; 2009. p. 328.

[20.] Schmidt BJ, Greenberg CR, Allingham-Hawkins DJ, Spriggs EL. Expression of X-linked bulbospinal muscular atrophy [Kennedy disease] in two homozygous women. Neurology. [print]. 2002 Sep 10; 59(5):770-2.

[21.] Tomik B, Partyka D, Sulek A, Kurek-Gryz EA, Banach M, Ostrowska M, Zaremba J, Figlewicz DA, Szczudlik A. A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy. Amyotroph Lateral Scler. 2006 Jun; 7(2):72-9.

[22.] Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. a sex linked recessive trait. Neurology. 1968 Jul; 18(7):671-80.

[23.] Takahashi A. [The founders of neurology: Moritz Heinrich Romberg and Hiroshi Kawahara]. Rinsho Shinkei gaku. 1995 Dec; 35(12):1313-22. Japanese.

[24.] Kawahara H. Naika-ikou shinkeikeitou-hen [Textbook of neurology]. 1897. Japanese.

[25.] Domitrz I, Jedrzejowska M, Lipowska M, Siddique T, Kwiecinski H. [Kennedy's disease: expansion of the CAG trinucleotide]. Neurol Neurochir Pol. 2001; 35(1 suppl): 107-14. Polish.

[26.] Meriggioli MN, Rowin J, Sanders DB. Distinguishing clinical and electrodiagnostic features of X-linked bulbospi nal neuronopathy. Muscle Nerve. 1999 Dec; 22(12):1693-7.

[27.] Parboosingh JS, Figlewicz DA, Krizus A, Meininger V, Azad NA, Newman DS, Rouleau GA. Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS. Neurology. 1997 Aug; 49(2):568-72.

[28.] Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Amyotrophic lateral sclerosis mimic syndromes: a population-based study. Archives Neurol. 2000 Jan; 57(1):109-13.

[29.] Chen C, Fischbeck KH. Clinical features and molecular biology of Kennedy's disease. In: Wells RD, Ashizawa T, ed. Genetic instabilities and neurological diseases. Burlington (MA): Elsevier; 2006. p. 211-20.

[30.] Prior TW, Russman BS. Spinal muscular atrophy (24 Feb 2000) [updated 27 Jan 2011]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, ed. Gene-Reviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-[cited 27 Nov 2012]. < books/NBK1352/>.

* Based on a poster presentation at the 2011 Midwest Chapter/MLA Annual Meeting; Indianapolis, IN: October 8-11, 2011.

EC Supplemental Table 2 is available with the online version of this journal.

([dagger]) These refer to the Orpha number in the Orphanet database, the Phenotype MIM number of the database Online Mendelian Inheritance in Man (OMIM), and the Systematized Nomenclature of Medicine-Clinical Terms (SNOMED CT).

Shelley Arvin, MIS


Shelley Arvin, MIS,, Assistant Librarian and Reference/Instruction Librarian to the Departments of Biology, Chemistry and Physics, Cunningham Memorial Library, Indiana State University, 510 North 6 1/2 Street, Terre Haute, IN 47809
Table 1
Most common name variants by number and percentage of records in final

     Name variants (n = 788)             Total *      Percentage

1    spinal and bulbar                     306           38.8%
       muscular atrophy
2    Kennedy's disease                     161           20.4%
3    spinobulbar muscular atrophy          100           12.7%
4    Kennedy disease                        77           9.8%
5    X-linked spinal and bulbar             76           9.6%
        muscular atrophy
6    bulbospinal muscular atrophy           51           6.5%
7    bulbospinal neuronopathy               49           6.2%
8    spinal bulbar muscular atrophy         42           5.3%
9    X-linked recessive                     30           3.8%
       bulbospinal neuronopathy
10   Kennedy syndrome                       23           2.9%
11   Spinal and bulbar                      18           2.3%
12   Kennedy-Alter-Sung                     16           2.0%
13   Kennedy's syndrome                     16           2.0%
     193 other name variants              < 16        < 2.0% each

     Name variants (n=788)             Cumulative    Cumulative
                                          total        percent

1    spinal and bulbar                     306          38.8%
       muscular atrophy
2    Kennedy's disease                     417          52.9%
3    spinobulbar muscular atrophy          500          63.5%
4    Kennedy disease                       549          69.7%
5    X-linked spinal and bulbar            549          69.7%
        muscular atrophy
6    bulbospinal muscular atrophy          582          73.9%
7    bulbospinal neuronopathy              622          78.9%
8    spinal bulbar muscular atrophy        654          83.0%
9    X-linked recessive                    654          83.0%
       bulbospinal neuronopathy
10   Kennedy syndrome                      666          84.5%
11   Spinal and bulbar                     678          86.0%
12   Kennedy-Alter-Sung                    688          87.3%
13   Kennedy's syndrome                    697          88.5%
     193 other name variants               788         100.0%

* Total includes duplicate records, since the same reference could use
more than one name variant.

Table 2
Frequency of all spinal and bulbar muscular atrophy (SBMA) name
variants, 1968-2010

                                               Number    Percent of
                                                 of         name
                                               records   variants *

spinal and bulbar muscular atrophy                306        38.8%
Kennedy's disease                                 161        20.4%
spinobulbar muscular atrophy                      100        12.7%
Kennedy disease                                    77         9.8%
X-linked spinal and bulbar muscular atrophy        76         9.6%
bulbospinal muscular atrophy                       51         6.5%
bulbospinal neuronopathy                           49         6.2%
spinal bulbar muscular atrophy                     42         5.3%
X-linked recessive bulbospinal neuronopathy        30         3.8%
Kennedy syndrome                                   23         2.9%
Spinal and bulbar muscular-atrophy                 18         2.3%
Kennedy-alter-sung                                 16         2.0%
Kennedy's syndrome                                 16         2.0%
X-linked bulbospinal muscular atrophy              14         1.8%
X-linked bulbospinal neuronopathy                  14         1.8%
X-linked recessive bulbospinal muscular            14         1.8%
x-linked spinal and bulbar muscular-atrophy        13         1.6%
X-linked spinobulbar muscular atrophy              13         1.6%
bulbo-spinal muscular atrophy                      11         1.4%
bulbar and spinal muscular atrophy                 10         1.3%
X-linked recessive spinal and bulbar                9         1.1%
  muscular atrophy
bulbar spinal muscular atrophy                      8         1.0%
bulbospinal muscular-atrophy                        7         0.9%
bulbo-spinal neuronopathy                           6         0.8%
Kennedy-Alter-Sung syndrome                         6         0.8%
Kennedy-alter-sung type                             6         0.8%
Progressive proximal spinal and bulbar              6         0.8%
  muscular atrophy
progressive proximal spinal and bulbar              6         0.8%
  muscular atrophy of late onset
spinal and bulbar amyotrophy                        6         0.8%
Spinal-bulbar muscular atrophy                      6         0.8%
X-linked bulbo-spinal neuronopathy                  6         0.8%
bulbar-spinal muscular atrophy                      5         0.6%
bulbospinal amyotrophy                              5         0.6%
bulbo-spinal amyotrophy                             5         0.6%
bulbospinal muscular-atrophy of late onset          4         0.5%
progressive spinal and bulbar muscular              4         0.5%
X-linked bulbar and spinal muscular atrophy         4         0.5%
X-linked spinal and bulbar muscular atrophy         4         0.5%
  of late onset
bulbospinal atrophy                                 3         0.4%
bulbospinal muscle atrophy                          3         0.4%
Kennedy-Alter-Sung disease                          3         0.4%
Kennedys disease                                    3         0.4%
Kennedy-type-bulbo-spinal amyotrophy                3         0.4%
spinal and bulbar Kennedy's amyotrophy              3         0.4%
spinal and bulbar muscle atrophy                    3         0.4%
X-linked bulbo-spinal muscular atrophy              3         0.4%
X-linked recessive spinobulbar muscular             3         0.4%
familial bulbo-spinal muscular atrophy              2         0.3%
hereditary proximal spinal and bulbar motor         2         0.3%
  neuron disease
hereditary proximal spinal and bulbar motor         2         0.3%
  neuron disease of late onset
hereditary spinobulbar muscular atrophy             2         0.3%
Kennedy disease/spinal bulbar muscular              2         0.3%
Kennedy's spinal amyotrophy                         2         0.3%
Kennedy's spinal and bulbar amyotrophy              2         0.3%
Kennedys-syndrome                                   2         0.3%
Kennedy-Stefanis                                    2         0.3%
Kennedy-syndrom                                     2         0.3%
Late-onset X-linked recessive spinal and            2         0.3%
  bulbar muscular atrophy
progressive bulbar and spinal muscular              2         0.3%
SBMA motor neuronopathy                             2         0.3%
spinal/bulbar muscular atrophy                      2         0.3%
X-linked bulbospinal amyotrophy                     2         0.3%
X-linked bulbo-spinal neuronopathy (BSN) of         2         0.3%
  late onset
X-linked bulbo-spinal neuronopathy of late          2         0.3%
X-linked Kennedy's spinal and bulbar                2         0.3%
  muscular atrophy
X-linked recessive bulbar spinal muscular           2         0.3%
X-linked recessive bulbo-spinal muscular            2         0.3%
X-linked recessive bulbospinal neuropathy           2         0.3%
X-linked spinal muscular atrophy                    2         0.3%
adult onset spinal/bulbar muscular atrophy          1         0.1%
adult onset X-linked recessive bulbo-spinal         1         0.1%
  muscular atrophy
adult sex-linked proximal hereditary motor          1         0.1%
adult spinal and bulbar muscular atrophy            1         0.1%
adult spinal and bulbar muscular atrophy            1         0.1%
  with X-linked recessive inheritance
adult-onset bulbospinal neuronopathy                1         0.1%
adult-onset spinal and bulbar amyotrophy            1         0.1%
adult-type familial bulbospinal atrophy             1         0.1%
bulbar and spinal muscular atrophy of late          1         0.1%
bulbar and spinal muscular atrophy of               1         0.1%
  X-linked recessive trait
bulbar-spinal amyotrophy                            1         0.1%
bulbar-spinal muscular atrophy (BSMA) of            1         0.1%
  the Kennedy-Alter-Sung type
bulbo spinal muscular atrophy                       1         0.1%
bulbo spinal neuronopathy                           1         0.1%
bulbo-spinal lower motor neuron disease             1         0.1%
bulbospinal muscular atrophy of late onset          1         0.1%
bulbospinal muscular disease                        1         0.1%
bulbospinal muscular disease of the                 1         0.1%
  Kennedy-Alter-Sung type
chromosome X-linked recessive bulbospinal           1         0.1%
chronic X-linked recessive spinal amyotrophy        1         0.1%
distal spinal bulbar muscular atrophy               1         0.1%
early-onset and rapidly progressive X-linked        1         0.1%
  spinal and bulbar muscular atrophy
familial bulbar spinal muscular-atrophy             1         0.1%
familial bulbospinal atrophy                        1         0.1%
familial bulbospinal muscular-atrophy               1         0.1%
Familial bulbospinal neuronopathy                   1         0.1%
familial progressive bulbar and spinal              1         0.1%
  muscular atrophy
Familial progressive bulbar-spinal muscular         1         0.1%
Hereditary proximal spina; and bulbar motor         1         0.1%
  neuron disease
hereditary motor neuron disease: The                1         0.1%
  proximal, adult, sex-linked form
hereditary proximal spina; and bulbar motor         1         0.1%
  neuron disease of late onset
Idiopathic bulbo-spinal muscle atrophy              1         0.1%
Kennedy Alter-Sung syndrome                         1         0.1%
Kennedy disease/syndrome                            1         0.1%
Kennedy gene                                        1         0.1%
Kennedy syndrome--bulbo-spinal muscular             1         0.1%
Kennedy type of SMA                                 1         0.1%
Kennedy-Alter-Sung (KAS) disease                    1         0.1%
Kennedy-alter-sung (kas) syndrome                   1         0.1%
Kennedy-Alter-Sung syndrome-like proximal           1         0.1%
  dominant neurogenic atrophy
Kennedy-Alter-Sung type bulbo-spinal                1         0.1%
  muscular atrophy
Kennedy-Alter-Sung type spinal muscular             1         0.1%
Kennedy's bulbospinal atrophy                       1         0.1%
Kennedy's medullo-spinal amyotrophy                 1         0.1%
Kennedy's neuron disease                            1         0.1%
Kennedys syndrome                                   1         0.1%
Kennedy's X-linked bulbospinal amyotrophy           1         0.1%
Kennedys-disease                                    1         0.1%
Kennedy-Stefanis chronic spinal amyotrophy          1         0.1%
Kennedy-Stefanis disease                            1         0.1%
Kennedy-stefanis type                               1         0.1%
Kennedy-Syndrome                                    1         0.1%
late onset progressive bulbar and spinal            1         0.1%
  muscular atrophy
Late onset x linked recessive spinal and            1         0.1%
  bulbar muscular atrophy
Late onset x-linked progressive spinal              1         0.1%
  muscular atrophy
late onset X-linked recessive bulbospinal           1         0.1%
late progressive recessive X-linked proximal        1         0.1%
  spinal and bulbar amyotrophy
late recessive X-linked Kennedy's spinal and        1         0.1%
  bulbar amyotrophy
late recessive x-linked spinal and bulbar           1         0.1%
  kennedy's amyotrophy
muscular atrophy, spinal and bulbar (SBMA),         1         0.1%
  X-linked Kennedy type
progressive bulbar-spinal amyotrophy                1         0.1%
Progressive bulbospinal amyotrophy                  1         0.1%
progressive bulbospinal muscular atrophy of         1         0.1%
  sex-linked recessive trait
progressive spinal/bulbar muscular atrophy          1         0.1%
proximal spinal muscular atrophy                    1         0.1%
Pseudomyopathic spinal amyotrophy                   1         0.1%
recessive x-coupled kennedy spinal and              1         0.1%
  bulbar amyotrophy
recessive X-linked amyotrophic spinobulbar          1         0.1%
  muscular atrophy
sex-linked proximal hereditary motor                1         0.1%
sex-linked recessive bulbar spinal muscular         1         0.1%
spinal and bulb muscular atrophy                    1         0.1%
spinal and bulbar (SBMA), X-linked Kennedy          1         0.1%
spinal and bulbar muscular atrophy with             1         0.1%
  X-linked recessive inheritance
spinal and bulbar muscular dystrophy                1         0.1%
spinal and bulbular atrophy                         1         0.1%
spinal bulbar and muscular atrophy                  1         0.1%
spinal muscular atrophy (SMA) of Kennedy            1         0.1%
spinal muscular atrophy of the Kennedy type         1         0.1%
spinal-and-bulbar-muscular-atrophy                  1         0.1%
spino bulbar muscular atrophy                       1         0.1%
spinobulbar amyotrophy                              1         0.1%
spinobulbar and muscular atrophy                    1         0.1%
spino-bulbar muscular atrophy                       1         0.1%
spinobulbare muskelatrophie                         1         0.1%
spinobulbomuscular atrophy                          1         0.1%
type Kennedy                                        1         0.1%
x chromosomal bulbospinal neuropathy                1         0.1%
X chromosome associated progressive                 1         0.1%
  bulbospinal neuropathy
x chromosome-linked bulbospinal neuronopathy        1         0.1%
X chromosome-linked spinal muscular atrophy         1         0.1%
X linked spinobulbar muscular atrophy               1         0.1%
X-BSMA with neuropathy                              1         0.1%
x-chromosomal bulbospinal muscular atrophy          1         0.1%
X-chromosomal recessive bulbospinal                 1         0.1%
x-chromosomal recessive spinobulbar muscular        1         0.1%
x-chromosomal recessive spinobulbar muscular        1         0.1%
  atrophy (type Kennedy)
X-chromosome linked bulbospinal muscular            1         0.1%
X-chromosome-linked adult bulbospinal               1         0.1%
X-linked adult-onset bulbospinal muscular           1         0.1%
X-linked adult-onset SBMA                           1         0.1%
X-linked bulbar spinal muscular atrophy             1         0.1%
X-linked bulbospinal muscular atrophy               1         0.1%
X-linked bulbospinal muscular-atrophy               1         0.1%
X-linked bulbospinal neuronopathy Kennedy           1         0.1%
X-linked bulbospinomuscular atrophy                 1         0.1%
X-linked muscular atrophy                           1         0.1%
X-linked muscular-atrophy                           1         0.1%
x-linked progressive spinal muscular atrophy        1         0.1%
X-linked proximal spinal and bulbar                 1         0.1%
X-linked recessive bulbar-spinal muscular           1         0.1%
X-linked recessive bulbospinal amyotrophy           1         0.1%
x-linked recessive bulbospinal                      1         0.1%
x-linked recessive bulbo-spinal                     1         0.1%
X-linked recessive bulbo-spinal neuronopathy        1         0.1%
X-linked recessive spinal amyotrophy                1         0.1%
x-linked recessive spinal and bulbar                1         0.1%
X-linked spinal and bulbal muscular atrophy         1         0.1%
X-linked spinal and bulbar atrophy of late          1         0.1%
X-linked spinal and bulbar muscular-atrophy         1         0.1%
  of late onset
X-linked spinal bulbar and muscular atrophy         1         0.1%
x-linked spinal bulbar muscular-atrophy             1         0.1%
X-linked spino-bulbar muscular atrophy              1         0.1%
X-linked spinomuscular atrophy                      1         0.1%
X-linked: spinobulbar muscular atrophy              1         0.1%
bulbar spinal neuronopathy                          0           --
bulbar-spinal muscular-atrophy                      0           --
bulbar-spinal neuronopathy                          0           --
bulbo-SMA                                           0           --
Kennedy-disease                                     0           --
Kennedy's-disease                                   0           --
Kennedy's-syndrome                                  0           --
Kennedy-Stefanis syndrome                           0           --
Spinobulbornuscular atrophy                         0           --
x chromosomal bulbospinal neuronopathy              0           --
X-linked bulbospino muscular-atrophy                0           --
X-linked spinal and bulbar muschular atrophy        0           --
x-linked spinal bulbar muscular atrophy             0           --
Total records                                   1,352
Total all SBMA variants (with duplicates)         788
  count for each year
All SBMA variants (without duplicates) count      756
  for each year

* Records may appear in more than one category. Percentage is the
percentage of all name variants (788), not of unique records.
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Author:Arvin, Shelley D.
Publication:Journal of the Medical Library Association
Article Type:Report
Geographic Code:1USA
Date:Apr 1, 2013
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