Lafora disease

There are currently no treatments available to slow the progression of Lafora disease. However, there is ongoing research regarding potential future treatments. For example, there has been research on mice with Lafora disease that were bred with mice that have a knockout of the PTG gene (an inactivated copy of the gene). The PTG gene provides instructions for one of the enzymes that modify glycogen synthase activity. If it is not functional, or “knocked out,” no Lafora disease develops. This research may show that the disease could be prevented by indirectly altering glycogen synthase function.^[1] An article with more information about this research can be viewed by clicking here.

Lafora disease affects a small number of people compared to the general population and is considered rare in many parts of the world.^[2] Unfortunately, the field of rare diseases as a whole suffers from a shortage of medical and scientific knowledge, largely due to lack of awareness and funding sources. Until recently there was no real research or public health policy concerning issues related to the field. Those affected by these diseases face similar difficulties in their quest for relevant information and proper direction towards qualified professionals.^[2] On a positive note, there are now several organizations aiming to raise awareness of rare diseases as well as funding programs to support rare disease research and potential therapies.

You can find relevant articles on Lafora disease through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "Lafora disease" as your search term should help you locate articles. Click here to view a search.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.