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Resources for Patients

Frequently Asked Questions


What Causes GNE Myopathy/HIBM?

GNE Myopathy is believed to be caused by a genetic mutation. The GNE gene encodes an enzyme that is responsible for producing sialic acid, an important component in muscle function. The body’s failure to produce and maintain sufficient sialic acid levels causes muscles to slowly weaken.


What are Some of the Symptoms?

Symptoms of the disease typically begin between the ages of 20 and 35, but in some cases it is even later. Below is a list of common symptoms:

  • Foot-drop 
  • Frequently tripping 
  • Difficulty in climbing stairs
  • Difficulty in getting up from a seated position
  • Difficulty in running
  • Loss of balance
  • Weakness in index fingers
  • Weakness in arms and shoulder

If you have some of these symptoms and would like to have an online diagnosis check the ALDA free diagnostic tool. (Note: this is not a substitute for seeing a physician, but can set you on the right path)


When is a Good Time to Get Tested?

If you experience any of the symptoms listed above, and have family members already affected with GNE Myopathy, you should get tested by medical specialists.  Please reference the GNE Myopathy In Focus website, which offers free genetic testing for GNE Myopathy.  


Where can I be tested?

Your doctor should be able to preform a proper test for you, but in the event that this is not possible, please refer to the below resources: 

Los Angeles
UCLA Genetic Dept., Dr. Wayne Grody, M.D., Ph.D. 10833 Le Conte Ave. #12138
Los Angeles, CA 90095
Appointments: (310) 825-0867
Information: (310) 206-6581 

San Fransisco Bay Area
Open Medicine Institute
2500 Hospital Drive. Building #2
Mountain View, CA 94040
screening@openmedicineinstitute.org
(650) 691-8633

Ask O.M.I. about how to schedule an in-home screening and/or scheduled screenings anywhere in the U.S.


What are Some Other Names by Which GNE Myopahy is Known?

It is officially now known as GNE Myopathy, which has been named after the affected gene.  Previously, it was widely known as HIBM (Hereditary Inclusion Body Myopathy), but it has also been known as:


Nonaka Myopathy
DMRV – Distal Myopathy with Rimmed Vacuoles
QSM – Quadriceps Sparing Myopathy
HIBM2 – Hereditary Inclusion Body Myopathy-Type 2
IBM2 – Inclusion Body Myopathy-Type 2

 

What if You Have Been Recently Dignosed?

If you have been recently diagnosed with GNE Myopathy, you are likely afraid; but fortunately you are not alone. It’s not uncommon to be overwhelmed with such a diagnosis. There are many organizations, and patients support groups that offer appropriate assistance. Please see the list of resources for groups and organizations that may be helpful to you.

There are a number of support options available to you. Whether you are affected by GNE Myopathy or know someone who has been diagnosed, the ability to share your experiences may help you fight feelings of isolation. Please refer to our extensive list of resources.

 

How Do I Know if I am a Carrier?

GNE Myopathy is an autosomal recessive disorder, which means that the parents of someone affected by GNE Myopathy are carriers of the disease. Carriers are not affected by the disease, which means that their bodies function normally. But when two carriers have a child, there is a 25% chance with each pregnancy of having a child who actually has GNE Myopathy, there is a 50% chance that each child will be a carrier like his or her parents (and not have the disease), and there is a 25% chance that each child of the couple will not carry any mutation for the disease (meaning that he or she will not be a carrier nor will he or she have the disease).

It is possible to be tested at any time, but it is particularly important prior to becoming pregnant or during early pregnancy.

Testing is anonymous and can be performed with a painless cheek swab.  

For testing see your physician, contact the Open Medicine Institute or see list of phsyicians familiar with GNEM/HIBM

 

Is There a Treatment or Cure?

Currently there is no cure; however, the National Institutes of Health and Ultragenyx, a pharmaceutical company, are conducting clinical trials on patients to test the following two substances: 1) ManNac and 2) Sialic Acid.  


What is a Patient Registry?

A patient registry collects information on patients with GNE Myopathy.  The information is stored in a database and is made available to researchers who are studying this disease. 

Please register to become a part of this database at:

GNEM-Disease Monitoring Program
Specifically for Japanese Patients

 

What is a Natural History Study?  

Natural history studies allow scientists to collect anonymous data from parients from all over the world to gain a better understanding of GNEM. They track progression over time and identify demographic, genetic and environmental variables that correlate with a specific disease. Even if you do not want personal information used, this is an anonymous way to contribute to advancing the general understanding of GNEM.

To participate in this you will need to travel to a hospital that conducts the natural history studies. Researchers want to learn more about the causes, symptoms, and effects of GNE Myopathy.  Your medical and genetic information will be collected as well as muscle tests, blood samples and other tests as needed. 

 


What if I want to start a family, and I am a Carrier?

This is an important decision that you, your spouse, and your doctor need to discuss and decide what would be the best option for you. For information about genetic testing click here.

Read more on inheritance patterns here.