GNE Myopathy

Symptoms

What are the main symptoms of GNE myopathy?

One of the first signs of GNE myopathy (inclusion body myopathy 2 (IBM2)) is foot drop. Because the muscle in the front of the shin (anterior tibialis) is weakened, the toes do not lift as they should. This makes it difficult to walk, run and keep balanced. People with foot drop often trip because they cannot lift this part of their foot. Another sign of IBM2 is weakness in the index finger. Over time, the weakness gets worse and involves more muscles, including those in the hands, shoulder and neck. Usually, muscles used in the face and eyes as well as muscles used for breathing and digestion do not develop weakness.

References
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What other signs and symptoms occur in GNE myopathy?

Does everyone with GNE myopathy start showing symptoms at the same age?

Is there a characteristic feature of GNE myopathy?

What is foot drop and when do you see it in GNE myopathy?

Are there other types of GNE myopathy?

What other signs and symptoms occur in GNE myopathy?

Because GNE myopathy (inclusion body myopathy 2 (IBM2)) is rare, scientists are still learning about this condition. Even though most people with IBM2 do not have trouble breathing, there have been a few people who have been reported to have trouble with their breathing, especially at night. For this reason, people with IBM2 should be checked by a pulmonologist (lung doctor) to make sure they do not have any breathing problems. Also, there have been a few people with IBM2 who have had heart problems. Therefore, people with IBM2 may need to be have their heart tested to make sure there is no problem with the heart muscle. This can be assessed by a cardiologist (heart doctor).

References
Does everyone with GNE myopathy start showing symptoms at the same age?

The age at which a person may start showing symptoms of GNE myopathy (inclusion body myopathy 2 (IBM2)) is not the same for everyone. Some people with IBM 2 will start to show symptoms in the late teenage years. Others will not start showing symptoms until their early 20's or 30's.

References
Is there a characteristic feature of GNE myopathy?

The characteristic feature of GNE myopathy (inclusion body myopathy 2) is muscle weakness at the ends of the arms and legs that gets worse over time. Usually, the muscles at the front of the thigh (quadriceps) do not show weakness, even though the other muscles of the arms and legs will get weaker over time.

References
What is foot drop and when do you see it in GNE myopathy?

One of the first signs of GNE myopathy (inclusion body myopathy 2 (IBM2)) is foot drop. Foot drop happens when the muscle in the front of the shin (tibialis anterior) is weakened and the toes do not lift as they should. People with foot drop often trip because they cannot lift this part of their foot. This makes it difficult to walk, run and keep balanced. A brace can be put on the feet to help keep the foot from dropping and help a person balance.

References
  • Gene Reviews 14 Mar. 2016 http://www.ncbi.nlm.nih.gov/books/NBK1262/
Are there other types of GNE myopathy?

There are other forms of GNE myopathy (inclusion body myopathy 2 (IBM2)). However, they are not caused by changes/mutations in the GNE gene.

When a doctor is trying to decide the cause of symptoms, he/she may test for other conditions that have similar symptoms to IBM2. Some other genetic conditions that can look a lot like IBM2 are inclusion body myopathy 3, inclusion body myopathy associated with Paget disease of the bone and/or frontotemporal dementia, autosomal dominant limb-girdle muscular dystrophy type 1A or autosomal recessive limb-girdle muscular dystrophy type 2J. In addition, there are a variety of disorders that have similar findings when looking at a muscle biopsy. Your doctor can tell IBM2 from other similar conditions because of the lab tests, results of a muscle biopsy and the symptoms a person with IBM2 may show.

References

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