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Spinal and bulbar muscular atrophy (SBMA) is a rare inherited X-linked disease characterized by progressive muscle wasting and weakness with symptom onset at about age 50ish in males. The disease was discovered to be a unique condition in 1968 by Dr. Kennedy (as well as Alter, Sung, and Stefanis). Research on SBMA is complicated because SBMA has had many different names assigned to the disease. Subject Headings were assigned to SBMA in MEDLINE and CINAHL only as recently as 2009 and 2010. But the multiple names are also making it had to assign the Subjects accurately.

Just how many names did SBMA have? Was one or a few used most of the time? How many publications were being missed by researchers doing literature reviews? 

Disease Names that are not SBMA

Since the publication of the article, some names have been determined to have been used to identify other diseases. Sometimes the name was  

distal spinal and bulbar muscular atrophy
progressive spinal muscular atrophy
progressive spinal muscular atrophy (PSMA)
progressive muscular atrophy
chronic-progressive Spinobulbar Spasticity (SBS) or Primary Lateral Sclerosis (PLS), spinal
progressive muscular atrophy alone or associated with progressive bulbar palsy
spinal progressive muscular atrophy

spinobulbar pallido-louysian muscular atrophy
dentatorubral-pallidoluysian atrophy (DRPLA) 
dentatorubral-pallidoluysian atrophy
dentatorubral and pallidoluysian atrophy, DRPLA)

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

Professional Databases for SBMA

Dataset for SBMA Names in PubMed

SBMA Search for Professional Databases

The following search may be copied and pasted into a professional database to search for publications on spinal and bulbar muscular atrophy. It must be adapted to the specific database to optimize the retrieval of results. A librarian can help you adapt the search to a specific database, if appropriate.

This search will retrieve records from the free PubMed database but PubMed has complicated search rules. A librarian can help you adapt the search to optimize PubMed's search features.

The search below will not be a comprehensive search which retrieves absolutely every publication about SBMA. This is because searches designed to be comprehensive retrieve all relevant publications also retrieve more irrelevant publications. And searches designed to retrieve only relevant publications usually lose some relevant publications while eliminating the irrelevant publications.


((((bulb* AND (spino* OR spina*)) OR bulbospinal OR spinobulbar OR "bulb*-spinal" OR "spinal-bulb*") AND ("muscular atrophy" OR "muscular-atrophy" OR amyotrophy OR neuropathy OR neuronopathy )) OR ((spinobulbomuscular OR bulbospinomuscular) AND atrophy) OR ("kennedy* disease" OR "kennedy* syndrome")) NOT “foster kennedy”

Internet Searches for SBMA

The three following searches can be pasted into Google to find some webpages about spinal and bulbar muscular atrophy. However, Google searching has some limitations.

  • Google only allows 10 search terms in a search.
  • Google does not do truncation (searches for words that start with the same letters but end differently, i.e., jump, jumper, jumping).
  • Therefore, The Search must be broken into pieces to search a few names at a time. Much more complicated and labor-intensive.


bulbospinal|spinobulbar|spinobulbomuscular| bulbospinomuscular|”kennedy disease”|”kennedy syndrome”|”spinal bulbar”

bulbar|bulbo spinal "muscular atrophy"|neuronopathy"|amyotrophy

Kennedy|kennedys disease|syndrome|gene

Subject Guide

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Shelley Arvin
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