Diagnosing your patients with GNE myopathy
What to look for in a clinical evaluation1
Most muscle dystrophies like GNE myopathy have common features such as slowly progressive symmetrical weakness, making subtypes (already inherently rare) difficult to diagnose.
Identifying pattern of muscle weakness, inheritance, and unique phenotypic features can help narrow down the muscle dystrophy subtype. In addition, a genetic test can help confirm GNE myopathy.
The American Academy of Neurology (AAN) recommends a clinical approach to diagnosing a patient with a suspected progressive muscular dystrophy.
A genetic test for GNE myopathy is free
Importance of genetic testing for GNE myopathy
The AAN recommends genetic testing to confirm a diagnosis of any progressive muscular dystrophy, including GNE myopathy. In addition to informing long-term prognosis of the disease, an accurate diagnosis helps to1,3
- Efficiently direct care
- Eliminate the need for repeated testing
- Help patients prepare and plan for their future
A timely diagnosis may also help to shape long-term prognosis, as potential treatments to slow progressive damage in people with GNE myopathy have reached an advanced clinical study phase. When potential treatment becomes available, a definitive GNE myopathy diagnosis will help to initiate treatment early, potentially slowing the conversion of muscle to fatty-fibrous tissue.3
Free genetic testing
Free genetic testing is available for your patients to check for mutations in the GNE gene.
- Test results take about 2 weeks
- Complimentary referral to a genetic counselor to address any patient questions or concerns by phone
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