Neuromuscular Disease Foundation Partners with ThinkGenetic to Boost Awareness
In a move that will broaden the reach of valuable resources available to those living with GNE Myopathy (or HIBM), the Neuromuscular Disease Foundation (NDF) has joined the ThinkGenetic Advocacy Partnership Program.
GNE Myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare inherited disease that causes severe muscle weakness in the legs and arms, usually leading to physical disability within twenty years of onset. The muscles of the eyes and face, those used for breathing and digestion, and the heart muscles are usually spared.
“I am so pleased to be able to partner with the passionate professionals at NDF to boost the advocacy and education portion of their mission, which aligns well with ours. Now we have more ways to help ThinkGenetic users with practical questions about what it’s like to live with GNE Myopathy, and much more.” said ThinkGenetic President Len Barker.
The Neuromuscular Disease Foundation’s (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach and funding critical research focused on treatments and a cure.
“We are grateful for the opportunity to team up with ThinkGenetic in order to help amplify the collective voice of GNE Myopathy (HIBM) patients globally,” said Lale’ Welsh, CEO of the Neuromuscular Disease Foundation. “Exposure across substantial platforms like this will direct new and existing patients to specialists dedicated to their specific plight and can expedite proper diagnosis – which is often the biggest challenge with orphan diseases.”
About the ThinkGenetic Advocacy Partner Program: ThinkGenetic enters into Advocacy Partner agreements with organizations, support groups, and charities to share information, increase public awareness of genetic conditions and provide trustworthy resources to those living with or caring for someone with a genetic disorder. Learn more and view current partners at news.thinkgenetic.com/advocacy-partner-program or email email@example.com for information about enrollment in the program.
Is Nimaline Mayopathy stage 3 is the same ?
Hi Monty and thank you for your question. Although similar, GNE myopathy and Nemaline myopathy are two different genetic conditions.
Nemaline myopathy causes muscle weakness throughout the body due to problems with a part of the muscle called the sarcomere. It’s caused by changes in a variety of genes, but most often in the NEB or ACTA1 genes.
While GNE myopathy, or hereditary inclusion body myopathy, also causes muscle weakness throughout the body, it is caused by a decrease in the amount of sialic acid in the body. It’s unclear how this decrease in sialic acid causes muscle weakness.
You can learn more about GNE Myopathy (GNEM) here, and nemaline myopathy here.