Others are investigating potential therapies that correct the mutated GNE gene. If you want to know more about this research or take part in clinical studies, you can join the GNEM registry at www.gne-registry.org.
Current management of the condition aims to improve quality of life through physiotherapy, assistive devices for walking (for example, ankle or foot orthoses), pain management (if needed) and social and emotional support. It’s recommended that people with GNE myopathy, who use a wheelchair on a daily basis, have the seasonal annual flu and the five-yearly pneumococcal jab.
What is the prognosis?
The condition progresses slowly, but this varies between individuals. Many people with GNEM will need to use a wheelchair in later life; for some, this may be seven to 10 years after the onset of symptoms, for others this may be 20 or more years.
Maintaining a healthy lifestyle and having physiotherapy or hydrotherapy (with caution to avoid over exercising, muscle aches and tiredness) might help to delay the need for a wheelchair. But a wheelchair may eventually be useful in maintaining your independence and help to reduce fatigue.
Download your alert card
Alert cards are conveniently shaped to fit inside a wallet and outline key recommendations and precautions that a non-specialist clinician would need to know during a time of worsening health.