| | |
|
 | |
 
Patient & Family Info
> Genetics Review
> Muscle Anatomy Overview
> Our Research
> Limb Girdle Muscular Dystrophy
> Duchenne/Becker Muscular Dystrophy
>

Facioscapulohumeral Dystrophy
>

Myotonic Dystrophy
>

Myotubular Myopathy
> Miyoshi Myopathy
>

Centronuclear Myopathy
>

Participating in Research
> FAQs
>

Ways to Help
>

Support


Become a Participant
  Many families are interested in supporting our research. Click here to find out how you can help.
 
   
Need Assistance?
  Contact our on-staff research genetic counselor
 
   
Investigators
  Louis Kunkel, PhD
  Robert Brown, MD
  Alan Beggs, PhD
  Emanuela Gussoni, PhD
  Elizabeth Engle, MD
  Isaac Kohane, MD, PhD
   
Patient & Family Information
 

Thank you for visiting the Neuromuscular Disease Project web site. This section of the site is designed to give patients and their family members fairly detailed information on the genetics of the neuromuscular disorders that we are researching.

Neuromuscular diseases are a group of diseases that can present early or later in life. They are genetic disorders in that mutations in different genes that code for the proteins in nerve cells or in muscle cells can lead to one of several different neuromuscular disorders. Neuromuscular disorders can be relatively mild, moderate, or severe. Severe cases of neuromuscular disease may lead to death in early infancy. Patients with milder cases may have significant muscle weakness that persists for life. These disorders can be inherited in different ways.

 
 
Recent News & Site Updates
 

 

  
  Jerry Lewis MDA Telethon sets record! Details  
 
We know a lot about the genetics of neuromuscular diseases, but all the information can be complicated and overwhelming. We broke down this section of the web site in a way that, we hope, will be easy to understand. However, should you have any questions, our research genetic counselor would be happy to answer them. 		 
   
 
Genetics Review
The Genetics Review section explains information about the cells in the human body, and the genes and chromosomes found within our cells. It explains that genes provide the recipes for making proteins, which are very important components in the structure and function of our bodies. This section explains different types of alterations or mutations in genes and how they are passed on in families.


  Muscle Anatomy Review
The Muscle Anatomy Review section provides important information that may help you better understand what our muscles are made from and how changes in genes and proteins can affect muscle function. This section shows illustrations of the muscles in our bodies and how neuromuscular diseases can affect them.

Neuromuscular Diseases
There are informational pages for each of the neuromuscular diseases that we are currently investigating. Each section shows what we know about the genetic mutation that causes the given disease, the symptoms of the disease and the disease incidence, how the disease is inherited, the general treatments available, and information on genetic testing and research.

Participating in Research
The section on Participating in Research explains what one has to do to become a participant in our research. There is detailed information and contact information available should you want to learn more about our research. The goal of our research is to better understand exactly what happens in the muscles of an individual with a neuromuscular disorder, with the hope that this understanding will facilitate the invention of new therapies in the future. In general, our research does not involve giving out clinical test results to participants. However, if we obtain information that we think might be significant to your family, we may be able to have these results confirmed by a CLIA-certified clinical laboratory. A CLIA lab meets government-mandated requirements for quality assurance and quality control and is certified to release results from patient tests for clinical and diagnostic purposes. There will most likely be a charge associated with this testing, which will vary depending on the laboratory. Most CLIA laboratories will ask for fresh blood samples in order to ensure the accuracy of the results. If your results were confirmed, they would be reported to your physician and made available to you with proper genetic counseling. For more information on CLIA labs, please visit http://www.cms.hhs.gov/clia/.


Ways to Help
The section on Ways to Help provides information on what you can do to help research on neuromuscular disease become more successful.


Support Section
Last, visit our Support section to learn about the different support groups that are available to individuals with neuromuscular diseases and their families. Support groups can offer valuable educational information and emotional support to individuals who share the common diagnosis of a neuromuscular disease.


  Website Terms & Disclamer • Web Master • Privacy Policy • Datasharing
Developed by CreationProject