What is DNA?
Genetic information is coded in the DNA. Also known as deoxyribonucleic acid, the DNA carries all the instructions for life and development. For example, the DNA controls how many fingers we have, the color of our eyes and where our legs are placed in our body.

What is a gene?
A gene is a portion of genetic material (DNA) that determines a specific trait in a living organism. Human beings have approximately 30,000-40,000 genes.

What is a protein?
Proteins carry out different functions in our body. For example, some proteins are responsible for making our teeth, others carry oxygen in our blood, and others make up our muscles. The instructions for making proteins are coded in the DNA. Each gene carries the "recipe" for making a specific protein.

Where can I search up-to-date information?
The best way to find out about recent research on neuromuscular disease is to search medical and biology journals through the National Institutes of Health's "PubMed" web site. Some of the journals are very specialized and won't be found in your public library, but you can obtain the articles you want through a medical or science library.

You and your physician can also get up-to-date information on neuromuscular disease research by contacting the research labs directly. Although they probably won't answer specific questions about your or your child's symptoms or recommend treatment (only your physician can do that), many researchers are happy to discuss their work and recent findings with patients, families, and healthcare providers.

Will this research provide benefits now or just future generations?
We certainly hope that we will find something that will benefit patients in the near future. However, the experience with most genetic diseases has been that it takes at least several years from the time a causative gene or protein is discovered before an effective treatment is developed. We hope that recent advances in biomedical technology such as gene expression "chips" (microarrays) will expedite the process of finding a cure.

There is no family history of neuromuscular disease in my family prior to my child. Can it be any cause and effect to cause a mutation in the DNA in the mother or father before the child is born?
There are many reasons that a mutation can arise. There may be some risk that oxidants, radiation, or toxins that we are exposed to in our environment might damage our DNA. However, mutations also arise through the body's natural process of DNA replication. Each time a cell divides, the genetic material has to be copied or replicated. Sometimes, during this process, a mistake happens, resulting in an altered gene. Not all of these changes cause disease: they are an important part of evolution. Actually, some genetic alterations are known to make people resistant to certain diseases.

Has there been a questionnaire done for the parents? Starting with them and looking at maybe some similar common denominators between the parents health, may help to discover the onset of the gene mutation?

As far as we know, a study like this has not been done because we have no reason to think that parents of children with neuromuscular disease are any less "healthy" than other people. Most of us probably carry a few genetic alterations that, under certain circumstances, could potentially lead to disease in our children. Judging by the fact that so many parents of children with genetic diseases are healthy and have no unusual history of exposures, we would guess that most of these genetic changes originated by chance.