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Genetic and Rare Diseases Information Center (GARD)

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Vacuolar myopathy

Other Names for this Disease
  • Autophagic vacuolar myopathy
  • AVM
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Your Question

I have recently been diagnosed with vacuolar myopathy and wish to know more about what it is and how it can effect health.  My main difficulty is with stairs.  I have been told this condition can affect my whole body and am concerned about my heart muscle.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is vacuolar myopathy?

Vacuolar myopathy is a disease of the muscles (myopathy) that occurs when many abnormal pockets or spaces called vacuoles develop in the muscle cells.  The vacuoles stop the muscles from working properly and cause weakness and difficulty moving and breathing.  Muscles of the legs and arms are often affected, though muscles in other parts of the body (such as the heart or chest muscles used for breathing) may also be affected.  There are several types of vacuolar myopathy; the parts of the body affected, as well as the severity and worsening of muscle weakness, vary among the types.  The cause of most types of vacuolar myopathy is currently unknown.[1]
Last updated: 6/28/2012

How is the heart affected by vacuolar myopathy?

The effect of vacuolar myopathy on the heart depends on the specific type of vacuolar myopathy.  The heart can be severely affected by growing too large (cardiomyopathy) or not beating regularly (arrhythmia).  This may occur in Danon disease and adult-onset autophagic vacuolar myopathy with multiorgan involvement, which are two types of vacuolar myopathy. The symptoms of the heart being affected include general weakness and difficulty breathing.[1]

In another type of vacuolar myopathy known as acid maltase deficiency, the heart is less commonly affected.  And in yet another type, x-linked myopathy with excessive autophagy, the heart is not affected at all.[1]

Last updated: 6/28/2012