Meet Sandy and hear about her journey to diagnosis and how she manages her life with GNE Myopathy
As someone who grew up playing sports, Sandy denied anything was wrong when she displayed symptoms of GNE myopathy (GNEM) while pregnant with her daughter. When people noticed she was limping, she sought help to figure out what was happening. Sandy saw physicians at world-renowned facilities, but they could not find the cause of her symptoms. Through this challenging journey, she learned to be her own advocate and eventually got an official GNEM diagnosis that gave her hope to keep going.
GNE Myopathy (GNEM)
A note from our CEO to the GNE Myopathy CommunityGNE Myopathy is a rare muscle disease that affects both the upper and lower limbs. In people with this condition, a gene mutation causes low levels of sialic acid, a substance that helps muscle proteins function properly. As a result, muscles begin to weaken, resulting in loss of strength and muscle function.
People with GNE myopathy usually begin to exhibit symptoms in their twenties and thirties. Early symptoms typically include foot drop (difficulty lifting the front part of the foot) and other walking-related issues such as difficulty climbing stairs or running. As the disease progresses, it can spread to the upper legs, hips, arms, shoulders and hands. Over time, many people with GNE myopathy progressively lose muscle abilities and may eventually require a wheelchair.
GNEM is often mistaken for other conditions with similar symptoms, such as Limb-Girdle Muscular Dystrophy, Charcot-Marie-Tooth disease or Miyoshi myopathy.
Other names for GNE Myopathy:
- Hereditary Inclusion Body Myopathy (HIBM)
- Nonaka Myopathy
- Distal Myopathy with Rimmed Vacuoles
- Quadriceps Sparing Myopathy
- Inclusion Body Myopathy Type 2 (IBM2)
*DMP (Disease Monitoring Program)
**These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan.